Opiš bréf til Ban Ki-moon ašalritara Sameinušu žjóšanna

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

 

 

 

 

   

 

   

Opiš bréf til Ban Ki-moon ašalritara Sameinušu žjóšanna.

 

 

Ķslandi, maķ 2015

Excellency, Mr. Ban Ki-moon:

United Nations Secretary-General

UN Headquarters

First Avenue at 46th Street

New York 10017, USA

 

 

Meš žessu bréfi er ķslendska žjóšin įsamt félögum fólks meš taugasjśkdóma og męnuskaša į Ķslandi aš svara įkalli žķnu um nż žróunarmarkmiš Sameinušu žjóšanna um sjįlfbęra žróun sem til stendur aš samžykkja ķ september nęstkomandi. Ķslendska žjóšin žakkar žér afar vel fyrir frumkvęši žitt aš kalla eftir tillögum žjóša og grasrótarinnar aš hugmyndum um nż žróunarmarkmiš.

Žaš er von ķslendsku žjóšarinnar aš Sameinušu žjóširnar svari į jįkvęšan hįtt beišni hennar um aš bęta viš nżju žróunarmarkmiši sem snżr aš auknum rannsóknum į taugakerfi mannslķkamans og lękningu į fjölda taugasjśkdóma og skaša ķ taugakerfinu. Markmišiš er aš finna lękningu į öllum taugasjśkdómum og sköšum ķ taugakerfinu. Meginįstęša žess hve erfišlega gengur aš finna lękningu viš til dęmis męnu- og heilasköšum og taugasjśkdómum er sś aš vķsindasamfélagiš hefur takmarkašan skilning į virkni taugakerfisins. Žaš er žvķ veršugt verkefni fyrir Ķsland aš beita įhrifum sķnum til vitundarvakningar og ašgerša į žessu sviši.

Til fjölda įra hefur Ķsland talaš mįli męnuskašašra į vettvangi Noršurlandarįšs, Alžjóšaheilbrigšisstofnunarinnar (World Health Organization (WHO)) og Sameinušu žjóšanna. Margt hefur įunnist ķ žeirri barrįttu lķkt og norręnt samstarf (višhengi 1), alžjóšlegur upplżsingabanki um męnuskaša (višhengi 2) og žingsįlyktun Alžingis Ķslendinga (višhengi 4).

Sameinušu žjóšunum barst bréf frį Męnuskašastofnun Ķslands (višhengi 5) og frį fastanefnd Ķslands hjį Sameinušu žjóšunum ķ nóvember sķšastlišnum (višhengi 6) žar sem tilkynnt var aš taugakerfiš yrši eitt af fimm įhersluatrišum Ķslands til nęstu žróunarmarkmiša. Sķšan žį hefur fastanefndin freistaš žess aš afla stušnings viš mįliš į vettvangi Sameinušu žjóšanna.

Ķ maķ 2014 samžykkti Alžingi Ķslendinga žingsįlyktun um ašgeršir ķ žįgu lękninga viš męnuskaša. Žingsįlyktunin byggir į tveimur meginatrišum. Ķ fyrsta lagi er kvešiš į um norręnt samstarf um męnuskaša og er sś vinna komin ķ farveg undir merkjum norręnu rįšherranefndarinnar. Ķ öšru lagi er kvešiš į um aš ķslendsk stjórnvöld afli stušnings viš žaš aš einu af žeim žróunarmarkmišum sem Sameinušu žjóširnar setja į žessu įri verši beint aš framförum ķ lękningu sjśkdóma og skaša ķ taugakerfinu. Meš žingsįlyktun žessari hafa ķslendsk stjórnvöld samžykkt aš Ķsland muni tala mįli taugakerfisins į alžjóšavettvangi.

Žaš er einstakt aš žjóšžing skuli taka žį pólitķsku įkvöršun aš tala į alžjóšavķsu ķ žįgu eins lķffęrakerfis, taugakerfisins, sem lķtiš er vitaš um og engin lękning hefur fundist viš. Žaš er von ķslendsku žjóšarinnar aš rödd Alžingis Ķslendinga og rödd taugafélaga į Ķslandi heyrist į vettvangi Sameinušu žjóšanna.

Žaš eru grķšarlega miklir hagsmunir ķ hśfi, félagslega, sišferšilega og efnahagslega. Samkvęmt WHO, er įętlaš aš yfir 1 milljaršur manna um allan heim žjįist af sjśkdómum og skaša ķ taugakerfinu. Ekkert eitt lķffęrakerfi skapar meiri fötlun en taugakerfiš. Auk heila- og męnuskaša er fjöldi tauga- og gešsjśkdóma eins og Alzheimers, heilaskaši vegna heilablóšfalls, flogaveiki, MND, MS, žunglyndi, Parkinson og heilaglöp tengdir taugakerfinu. Samkvęmt WHO er tķšni ofangreindra sjśkdóma aš aukast sem kallar enn frekar į įrķšandi ašgeršir.

Meš įtaki Sameinušu žjóšanna og stušningi alžjóšasamfélagsins er hęgt aš stušla aš žvķ aš gera lękningu aš veruleika. Fįtt kęmi sér žvķ betur fyrir žau hundruš milljóna manna sem nś žjįst um allan heim, og ekki sķšur žį sem žjįst munu ķ framtķšinni af žessum sökum, en aš skilningur verši aukinn į virkni taugakerfisins. Žaš myndi leiša til framfara ķ mešferš og lękningu, minnka andlega og lķkamlega fötlun ķ veröldinni til muna og létta byršum af langveikum, fjölskyldum žeirra og žjóšfélögum, eins og fram kemur ķ skżrslu žinni, ,,Vegurinn til viršingar til 2030 (The Road to Dignity by 2030 ), aš žurfi aš gera.

Ķ skżrslu žinni, Vegurinn til viršingar til 2030 (The Road to Dignity by 2030), kemur vel ķ ljós sį mikli velvilji og viršing sem žś berš fyrir velferš og framtķš mannkynsins, aš allir fįi tękifęri til aš bera höfušiš hįtt, sama hvar ķ žjóšfélagsstiganum žeir standa. Žaš er afar žakkarvert (kafli 70, višhengi 7) aš žś bendir į aš nęstu žróunarmarkmiš žurfi aš taka į langvinnum sjśkdómum, s.s. gešsjśkdómum og öšrum sköšum ķ taugakerfinu įsamt umferšarslysum. Fįir njóta jafn lķtilla mannréttinda og viršingar samborgara sinna og žjóšfélaga og fólk sem bżr viš skert andlegt heilbrigši, lömun eša ašra fötlun į lķkama sķnum. Meš žinni fögru hugsjón hefur žś opnaš leiš fyrir Ķsland til aš knżja į um aš ašildarrķki Sameinušu žjóšanna taki höndum saman og hrindi sameiginlega af stokkunum alžjóšlegu įtaki til aukins skilnings į virkni taugakerfisins.

Ķslendska žjóšin styšur viš hugsjón žķna um betri heim fyrir alla og störf ķslenskra stjórnvalda ķ žįgu taugakerfisins. Žjóšinni er kunnugt um aš komiš hefur fram tillaga žess efnis aš nęstu sjįlfstęšu žróunarmarkmiš verši 17 talsins og undirmarkmišin 169. Ķslendska žjóšin bišur žig vinsamlegast um aš męla fyrir žvķ viš fulltrśa ašildarrķkja Sameinušu žjóšanna aš žęr samžykki aš bęta viš 18. sjįlfstęša žróunarmarkmišinu og aš žaš snśist einvöršungu um aš auka skilning į virkni taugakerfisins.

Ķslendska žjóšin leggur til eftirfarandi:.

1. aš "aukinn skilningur į virkni taugakerfisins" verši samžykkt sem sjįlfstętt žróunarmarkmiš hjį Sameinušu žjóšunum ķ september nęstkomandi.

2. aš ašildaržjóšir Sameinušu žjóšanna samžykki aš leggja ķ sjóš vissa fjįrupphęš įrlega til įrsins 2030. Féš skuli notaš til aš koma į fót alžjóšlegum starfshópi taugavķsindamanna frį višurkenndum hįskólum vķša um heim. Hlutverk starfshópsins verši aš skoša hina stóru mynd alžjóšlegs taugavķsindasvišs, meta stöšuna, koma į samvinnu og veita veglega styrki ķ žeim tilgangi aš nį fram heildarmynd af virkni taugakerfisins.

Tillögur aš rįšstöfunum til aš stušla aš auknum rannsóknum į taugakerfinu:

18.1 Fyrir 2030, fękka um helming žeim sem verša fyrir lömun og skaša į taugakerfinu vegna įverka eša sjśkdóma.

18.2 Fyrir 2020, efla og styšja viš alžjóšlegar vķsindarannsóknir og klķnķskar prófanir til aš auka skilning į taugakerfinu. Stušla aš aukinni alžjóšlegri samvinnu hvaš varšar rannsóknir į taugakerfinu. Kortlagningu į taugakerfinu og virkni žess lokiš.

18.3 Fyrir 2030, fjölga verulega framboši af įrangursrķkum mešferšum fyrir žį sem žjįst af gešröskunum, taugahrörnunasjśkdómum svo sem, MS, MND, Parkinsons og flogaveiki, skemmdum ķ taugakerfinu svo sem heila og męnuskaša vegna slysa.

Meš žakklęti og von aš leišarljósi,

Męnuskašastofnun Ķslands.

SEM, samtök endurhęfšra męnuskaddašra.

MS-félagiš.

MND félag Ķslands

Lauf, félag flogaveikra.

Heilaheill.

Gešhjįlp.

Parkinsonsamtökin į Ķslandi.

 

 

Višhengi:

1. Norręnt samstarf um męnuskaša (RMS).

2. Upplżsingabanki um męnuskaša.

3. Human Spinal Cord Injury: New & Emerging Therapies.

4. Žingsįlyktun um ašgeršir ķ žįgu lękningar viš męnuskaša.

5. Bréf til Ban Ki-moon frį Męnuskašastofnun Ķslands frį nóvember 2014.

6. Bréf frį Fastanefnd Ķslands til Sameinušu žjóšanna frį nóvember 2014.

7. Kafli 70 ķ skżrslunni ,,Vegurinn til viršingar til 2030  (The Road to Dignity by 2030).

 

 


Aš standa upp eftir byltu getur veriš erfitt, eša ómögulegt !

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

   

   

Aš standa upp eftir byltu getur veriš erfitt, eša ómögulegt !

Fyrst birt 17. október 2014.

       

Žaš er óžęgileg reynsla aš detta, en ekki sķšur er slęmt aš geta ekki stašiš upp aftur. Viš žetta vandamįl glķma margir meš skerta hreyfigetu, vegna sjśkdóms eša af öšrum įstęšum. Ég hef sjįlfur af žessu nokkura įra reynslu Smile

Ķ myndbandinu hér fyrir nešan, sżnir Rhonda Bonecutter 10 ašferšir viš aš standa upp eftir byltu. Hvort žś getur notfęrt žér einhverja žessara ašferša er aušvitaš hįš žķnum ašstęšum. Ķ heild sżna žessar ašferšir aš ekki er įstęša til aš gefast upp, žótt ašstęšur viršist vonlausar.  

Mitt rįš er, aš nęrst žegar žś liggur afvelta į gólfinu, hugsir žś til myndbandsins hennar Rhondu og veltir fyrir žér žeim kostum sem žś įtt ķ stöšunni. Vonandi dettur žér eitthvaš  śrręši ķ hug, sem bjargar žér śr klķpunni.

Loftur Altice Žorsteinsson.

 

 

  Klappašu myndinni til aš sjį myndbandiš 
   
  How to get up from the floor 

  


Rannsóknarklasi ķ hreyfitauga sjśkdómum er ekki lengur fjarlęg draumsżn

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

   

   

Rannsóknarklasi ķ hreyfitauga sjśkdómum er ekki lengur fjarlęg draumsżn.

Birtist fyrst ķ Morgunblašinu 09. október 2014.

       

Loftur Altice Žorsteinsson.

Į Alžingi er nśna til mešferšar tillaga til žingsįlyktunar, um aukna aškomu rķkisvaldsins aš rannsóknum į hreyfitauga sjśkdómum (MND, MS, Parkinson og fl.). Flutningsmašur er Sigrśn Magnśsdóttir, žingsflokksformašur Framsóknarflokks og viš framlagningu tillögunnar lżstu žingmennirnir Valgeršur Bjarnadóttir og Jóhanna Marķa Sigmundsdóttir, yfir eindregnum stušningi viš auknar rannsóknir į žessu sviši. Allsherjar- og menntamįlanefnd hefur mįliš til umfjöllunar, en tillaga Sigrśnar er eftirfarandi:

»Alžingi įlyktar aš fela rķkisstjórninni aš beita sér fyrir stofnun rannsóknarklasa į sviši taugavķsinda og taugahrörnunarsjśkdóma į Ķslandi, svo sem į sviši ALS/MND-sjśkdómsins. Rķkisstjórnin hlutist til um aš vķsindasamfélagiš į Ķslandi fįi naušsynlega ašstoš viš aš afla styrkja til aš fjįrmagna rannsóknir į taugasjśkdómum, einnig frį alžjóšasamfélaginu«.

Ķsland er kjöriš til rannsókna į erfšasjśkdómum.

Hreyfitaugar nefnast žęr frumur sem annast stjórn allra vöšva lķkamans. Žessa vöšva er ekki bara aš finna ķ śtlimum, heldur einnig innvortis og žeirra į mešal er žind og raddbönd. Žess vegna missa MND-sjśklingar ekki bara mįtt ķ höndum og fótum, heldur einnig ķ öndunarfęrum og raddböndin verša gagnslaus. Žrįtt fyrir aš um 150 įr eru lišin frį žvķ aš Jean-Martin Charcot (1825-1893) skilgreindi MND sem sérstakan sjśkdóm, er ennžį ekki vitaš hvaš veldur honum. Skiptar skošanir eru til dęmis um, aš hvé miklu leyti MND er erfšasjśkdómur, en rannsóknir į vegum Alžjóšlegrar mišstöšvar MND-rannsókna benda til aš hérlendis sé MND bundiš erfšum og aš erfšamynstriš sé »vķkjandi«.

Į sķšustu įratugum hafa oršiš stórstķgar framfarir ķ erfšafręši, sem hafa opnaš augu manna fyrir žeirri stašreynd aš fjölmargir sjśkdómar eru bundnir erfšum. Af nokkrum įstęšum er Ķsland kjöriš til rannsókna į erfšasjśkdómum. Ķ fyrsta lagi er hér mögulegt aš rekja ęttir langt aftur ķ tķmann. Ķ öšru lagi hefur Ķsland öldum saman veriš meira einangraš en žekkist um mörg önnur lönd. Ķ žrišja lagi veldur fįmenni žvķ aš ekki er śtilokaš, aš nį til allra meš įkvešinn sjśkdóm hjį heilli žjóš.  Sérstaša Ķslands veitir tękifęri, sem ekki mį lįta ónotuš.

Ķsland hefur skyldum aš gegna viš umheiminn, į sviši rannsókna į sjśkdómum. Nęr allar ašferšir, sem hér er beitt viš greiningu sjśkdóma og lękningu žeirra, eru komnar frį öšrum žjóšum. Ekki er sišferšilega rétt aš Ķsland verši įfram eingöngu žiggjandi į sviši lękninga, sérstaklega žegar fyrir liggur aš hérlendis eru ašstęšur góšar til įkvešinna rannsókna. Rķkisvaldinu ber einnig skylda til aš veita landsmönnum lęknisžjónustu og žaš į sérstaklega viš um banvęna sjśkdóma eins og MND. Fram aš žessu hafa valdamenn į Ķslandi tališ sęmandi, aš leggja ekkert opinbert fjįrmagn til MND-rannsókna. Meš tillögu-flutningi Sigrśnar Magnśsdóttur į Alžingi hyllir loks undir breytingar.

Rannsóknarklasi ķ hreyfitauga sjśkdómum er ekki ósanngjörn krafa.

Hugmyndin um rannsóknarklasa fyrir hreyfitauga sjśkdóma į sér fyrirmyndir hérlendis og er ķ samręmi viš stefnu stjórnvalda um skipulag vķsindarannsókna ķ landinu. Sem dęmi mį nefna, aš 2009 hlaut  »Alžjóšlegur rannsóknarklasi ķ jaršhita« styrk frį rķkinu sem nam 490 milljónum króna. Į nśverandi veršlagi samsvarar žessi upphęš um 600 milljónum króna. Tillaga Sigrśnar gerir ekki rįš fyrir svona rausnarlegu framlagi til Rannsóknarklasa ķ hreyfitauga sjśkdómum, en vel er hęgt aš reikna meš aš erlend framlög kunni aš verša af žessari stęršargrįšu.

Fólk um allan heim gerir žį kröfu, aš framfarir verši sjįanlegar į sviši hreyfitauga sjśkdóma og sérstaklega gildir žetta um MND, sem aš undanförnu hefur notiš mikillar athygli. Framlög einstaklinga til MND-rannsókna hafa stórlega aukist og til aš leggja įheršslu į alvarleika mįlsins hika menn ekki viš aš žola »ķskalt sturtubaš«.

Söfnunar-reikningur Mišstöšvar MND-rannsókna er: 0515-14-409909-561112.0960           og vefsetur félagsins er: http://midstodin.blog.is/blog/midstodin/.

Jafnan žegar MND-fólk kemur saman, rķkir ķ hópnum glašvęrš og ęšruleysi. Oft er heilbrigšiskerfiš til umręšu og ķ eftirfarandi dęmisögu er žvķ lķkt viš »heilagt stöšuvatn«, sem veitir flestum lękningu og öllum nokkura śrlausn:

»Žrķr sjśklingar leitušu lękningar hjį Hinu heilaga vatni og fyrstur til aš vaša śtķ var blindur mašur. Žegar hann kom śr kafinu, hafši hann fengiš fulla sjón. Nęrsti sjśklingur til aš leita įsjįr Hins heilaga vatns var heyrnarlaus. Žegar hann kom aftur į žurrt land hafši hann hlotiš fulla heyrn. Žrišji sjśklingurinn var MND-sjśklingur. Eftir aš hafa séš žau kraftaverk sem Hiš heilaga vatn hafši veitt blindum og heyrnarlausum, ók hann vongóšur ķ hjólastól sķnum śt ķ vatniš og hikaši ekki viš aš fara į bóla-kaf. Žegar hann kom aftur į žurrt land blasti įrangurinn viš sjónum. Hjólastóllinn hafši fengiš nżgja og glansandi hjólbarša«.

  


Rannsóknir sżna aš MND į Ķslandi er arfgengur sjśkdómur

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

   

   

Rannsóknir sżna aš MND į Ķslandi er arfgengur sjśkdómur.

Birtist fyrst ķ Morgunblašinu 02. október 2014.

       

Loftur Altice Žorsteinsson. 

Telja mį öruggt, aš nokkur hundruš nślifandi Ķslendinga muni falla fyrir MND-sjśkdómnum. Eins og flestir vita er MND ólęknandi sjśkdómur, sem veldur vöšvalömun og fjölmörgum öšrum erfišum einkennum. Ķ nęr öllum tilvikum hrakar MND-sjśklingum meš tķmanum og aš mešaltali er ęfilengd MND-sjśklinga um 15 įrum styttri en annara landsmanna.

Leitin aš orsökum MND er rétt aš hefjast.

Žótt MND hafi lengi veriš meš mannkyni og lķklega frį upphafi, er ennžį ekki vitaš af hverju sjśkdómurinn stafar. Žetta birtist lķklega bezt ķ žeirri stašreynd, aš į heimsvķsu eru 90-95% MND-tilvika talin vera tilfallandi. Nęr öll tilvik sjśkdómsins eru žvķ talin stafa af óžekktum įstęšum, ekki ólķkt žvķ sem gilti um lśsina sem fyrir nokkrum öldum var talin kvikna af sjįlfu sér.

Erfitt er aš rannsaka sjśkdóma sem stafa af óžekktum įstęšum og žess vegna beinast rannsóknir į MND aš žeim 5-10% tilvika sem talin eru stafa af arfgengum breytingum ķ genum sjśklinganna – vera erfšasjśkdómar. Lķffręšingar og ašrir sem fįst viš žessar rannsóknir reyna aš finna breytingar ķ genum žeirra sjśklinga sem eiga nįkomna ęttingja meš MND og mönnum hefur oršiš nokkuš įgengt.

Eitt žeirra atriša viš MND sem lengi hefur legiš fyrir og vekur furšu, er aš enginn munur greinist į sjśkdóms-einkennum fólks meš ęttgengt MND og tilfallandi. Žetta kann aš stafa af žvķ, aš raunverulega sé um erfšasjśkdóm aš ręša, en erfšagallinn sé einungis ófundinn. Stašreyndin er sś, aš smįtt og smįtt eru menn aš finna óžekkta gena-galla hjį sjśklingum sem taldir hafa veriš meš tilfallandi MND. Hlutfall ęttgengra tilvika er žvķ smįtt og smįtt aš aukast.

Rannsóknir į MND eru hafnar hérlendis.

Ķ heiminum hafa aš minnsta kosti 16 gen fundist sem viršast tengjast MND, en lengra hefur leitinni ekki mišaš. Menn eru raunverulega ķ sömu sporum og fyrir 20 įrum, žegar MND var fyrst tengt breytingu ķ geni sem nefnt er SOD1. Fyrir 10-15 įrum sķšan voru geršar gena-rannsóknir hérlendis, af Peter Munch Andersen viš hįskólann ķ Umeå, sem leiddu ķ ljós stökkbreytingu ķ žessu geni hjį nokkrum MND-sjśklingum og nefnist hśn SOD1-G93S. Aš auki fannst žessi breyting hjį fólki sem engin MND-einkenni hefur haft. Engar ašrar MND-tengdar gena-breytingar hafa veriš greindar hérlendis og auk Ķslands hefur SOD1-G93S einungis fundist ķ Japan.

Žaš er til marks um įhugaleysi hérlendra stjórnvalda į MND-rannsóknum, aš Svķarnir sem fundu SOD1-G93S hafa enga hvatningu fengiš til aš birta nišurstöšur sķnar. Hérlendis liggja einnig ónotuš tęki, sem gagnast gętu til aš greina SOD1-G93S. Žannig var staša mįla haustiš 2013, žegar į vegum félagsins  »Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum« (Mišstöšin) var hafin rannsókn į erfšatengslum MND-sjśklinga į Ķslandi. Vefsetur: http://midstodin.blog.is/blog/midstodin/.

Erlendis hafa menn komist aš žeirri stašreynd, aš kynja-hlutfall fólks meš MND er mismunandi eftir žvķ hvort um er aš ręša tilfallandi MND eša ęttgengt. Hjį žeim sem eru meš tilfallandi MND er kynja-hlutfalliš allt aš 60:40 (karlar:konur), en žegar um er aš ręša ęttgengt MND er kynja-hlutfalliš 50:50. Rannsókn Mišstöšvarinnar leiddi ķ ljós aš hérlendis er kynja-hlutfalliš nįkvęmlega 50:50 og samkvęmt žvķ er MND į Ķslandi arfgengur sjśkdómur.

Allir MND-sjśklingar į Ķslandi eiga sameiginlegan forföšur.

Rannsókn Mišstöšvarinnar leiddi ķ ljós, aš allir MND-sjśklingar į Ķslandi eiga sameinlegan forföšur, sem fęddist um 1500. Žar sem breytingin SOD1-G93S er afar fįtķš, mį ętla aš allir žeir sem bera breytta geniš hafi fengiš žaš ķ arf. Viš įframhaldandi rannsóknir fekkst sś óvęnta nišurstaša, aš bįšir foreldrar nęr allra MND-sjśklinganna eru einnig afkomendur sama ęttföšur.

Auk žess sem telja veršur sannaš, aš MND į Ķslandi er arfgengur sjśkdómur, benda nišurstöšurnar eindregiš til žess aš erfša-mynstur MND ķ landinu sé »vķkjandi«. Žetta er algjörlega į skjön viš žaš sem tališ hefur veriš, meš hlišsjón af nišurstöšum śr erlendum rannsóknum. Žessi nišurstaša hefur afgerandi įhrif viš leit aš MND-genum. Jafnframt liggur fyrir aš į Ķslandi eru einstakar ašstęšur til rannsókna į MND.

Leitaš er eftir stušningi landsmanna, viš MND-rannsóknir.

»Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum« er hugsjónafélag, sem stofnaš var 08. nóvember 2012. Fram aš žessu hafa rannsóknir félagsins veriš fjįrmagnašar meš framlögum einstaklinga, en bęši rķkisvaldiš og stęrstu fyrirtęki landsins hafa haldiš aš sér höndum. Framundan eru kostnašarsamar rannsóknir sem ekki veršur unnt aš fjįrmagna nema meš öflugu įtaki allra landsmanna.

Vķša um heim hefur »ķskalt sturtubaš« reynst fólki öflugur hvati til aš styšja MND-rannsóknir. Viš erum ekki į móti »ķsköldu sturtubaši«, en hvaša žvottavenjur sem menn hafa tamiš sér, treystum viš į stušning landsmanna. Söfnunar-reikningur MND-rannsókna er: 0515-14-409909-561112.0960.

  


Žingsįlyktun vęntanleg um stušning viš MND-rannsóknir.

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

   

   

Žingsįlyktun vęntanleg um stušning viš MND-rannsóknir.

Birtist fyrst 24. september 2014.

       

Į Alžingi hefur Sigrśn Magnśsdóttir formašur žingflokks Framsóknarflokks lagt fram tillögu til žingsįlyktunar, sem kann aš marka tķmamót ķ sögu MND-rannsókna į Ķslandi. Fram aš žessu hefur hiš opinbera sżnt fullkomiš skilningsleysi į MND-rannsóknum og žeirri sérstöšu sem Ķsland hefur til aš nį įrangri į sviši erfšasjśkdóma, žar meš talinna sjśkdóma ķ hreyfitaugum. Vonandi sjį MND-sjśklingar og ašstandendur žeirra fram į bjartari tķma.

Ég vil skora į alla sem styšja MND-rannsóknir, aš fylgja dyggilega eftir žvķ losverša framtaki Sigrśnar Magnśsdóttur, aš kalla Alžingi til lišs viš MND-rannsóknir į Ķslandi. Lįtiš fulltrśa okkar į Alžingi og ašra landsmenn vita af eindregnum stušningi ykkar viš aš žingmenn samžykki tillögu Sigrśnar.

Loftur Altice Žorsteinsson.

<<<<>>>><><<<<>>>> 

144. löggjafaržing 2014–2015. Žingskjal 24  —  24. mįl.

Tillaga til žingsįlyktunar

um rannsóknarklasa į sviši taugavķsinda og taugahrörnunarsjśkdóma.

Flm.: Sigrśn Magnśsdóttir.


Alžingi įlyktar aš fela rķkisstjórninni aš beita sér fyrir stofnun rannsóknarklasa į sviši taugavķsinda og taugahrörnunarsjśkdóma į Ķslandi, svo sem į sviši ALS/MND-sjśkdómsins. Rķkisstjórnin hlutist til um aš vķsindasamfélagiš į Ķslandi fįi naušsynlega ašstoš viš aš afla styrkja til aš fjįrmagna rannsóknir į taugasjśkdómum, einnig frį alžjóšasamfélaginu.

Greinargerš.

Ķsland hentar sérstaklega vel sem mišstöš rannsókna į sviši taugavķsinda žar sem žjóšin er fįmenn, ęttartengsl ljósari en hjį flestum öšrum žjóšum og veruleg vķsindažekking er til stašar.

Rannsóknum į taugasjśkdómum hefur fleygt mjög fram į allra sķšustu įrum og gefa taugavķsindamenn vonir um lękningar į żmsum hrörnunarsjśkdómum sem hrjį mannkyniš. Nż tękni og framfarir ķ rannsóknum į stofnfrumum gefur von um lękningu į göllušum heilafrumum.

Um allan heim beinist athygli manna um žessar mundir aš hinum banvęna hreyfitaugungahrörnunarsjśkdómi ALS/MND. Mikill fjöldi fólks er reišubśinn aš leggja barįttunni gegn sjśkdómnum liš. Telja veršur žvķ lķklegt aš nś sé lag til aš śtvega alžjóšlegt fjįrmagn til eflingar rannsókna hér į landi, t.d. į ęttgengi sjśkdómsins. Ašrir taugasjśkdómar, eins og MS, alzheimersjśkdómur og parkinsonsjśkdómur yršu vitaskuld einnig rannsakašir. 

Ķ stefnuyfirlżsingu rķkisstjórnarinnar er lögš įhersla į aš efla rannsóknar- og žróunarstarf ķ landinu. Žį fellur tillagan mjög vel aš stefnu og ašgeršaįętlun Vķsinda- og tęknirįšs 2014– 2016. Fyrsti kafli hennar fjallar um sókn og veršmętasköpun. Undirkaflar 1.9, 1.10 og 1.11 fjalla um įrangursrķka alžjóšlega sókn, aš efla sókn ķ samkeppnissjóši og markaši į alžjóšlegum vettvangi, auka stušning og rįšgjöf viš nżsköpunarfyrirtęki sem stefna į alžjóšlegan markaš og mótun ašgeršaįętlunar um žįtttöku Ķslands ķ alžjóšlegum rannsóknarįętlunum, einkum žar sem fjįrmagna žarf ķslendska žįtttöku meš opinberu framlagi.

Į Ķslandi er starfandi öflugt félag įhugamanna um MND-sjśkdóminn. Rannsóknir hér į landi hafa leitt ķ ljós ašra hegšun sjśkdómsins į Ķslandi en t.d. annars stašar į Noršurlöndum. Žetta er mjög athyglisvert. Loftur Altice Žorsteinsson sendi öllum žingmönnum tölvupóst 20. įgśst sl. žar sem hann skoraši į žingmenn aš veita rannsóknum į MND-sjśkdómnum lišsinni, ekki sķst vegna fyrrnefndrar sérstöšu Ķslands. Ķ žessu samhengi fer įgętlega į žvķ aš benda į aš Kįri Stefįnsson, stofnandi Ķslenskrar erfšagreiningar, hlaut nżveriš višurkenningu bandarķsku Alzheimerssamtakanna fyrir rannsóknir į alzheimersjśkdómnum. Sś višurkenning er vitnisburšur žess aš hér į landi er aš finna dżrmęta žekkingu og reynslu į sviši rannsókna į taugasjśkdómum.

Einstakt tękifęri er til aš efla vķsindastarf į Ķslandi. Ķslendskt samfélag bżr yfir ótrślega mörgum tękifęrum til veršmętasköpunar žrįtt fyrir smęš sķna. Viš žurfum aš nżta žau tękifęri sem okkur standa til boša ķ samvinnu viš öfluga alžjóšlega samstarfsašila. Aš grķpa žessi tękifęri mun ekki ašeins fęra okkur efnahagslegan įbata heldur hvetja okkur til aš leggja okkar af mörkum viš lausn žeirra įskorana sem mannkyniš stendur frammi fyrir.

Mikilvęgt er aš tillaga žessi hljóti almennan stušning į Alžingi og samžykkt hennar hafi ķ för meš sér aš komiš verši į fót metnašarfullum rannsóknarklasa sem geri okkur betur ķ stakk bśin til aš rįša gįturnar aš baki taugasjśkdómum eins og ALS/MND, MS o.fl.

  


Söfnunarreikningur MND-rannsókna

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

 

       

  
 Alžjóšleg mišstöš MND-rannsókna 
 
 žakkar kęrlega fyrir framlög til rannsókna į MND-sjśkdómnum. 
 
 Upplżsingar um söfnunarreikning okkar eru hér: 
 
Banki:0515
Höfušbók:14
Reikningsnśmer:409909
Kennitala:561112-0960
 
 
Vķša um heim hefur »ķskalt sturtubaš« (ALS Ice Bucket Challenge) reynst fólki öflugur hvati til aš styšja MND-rannsóknir. 
 

Viš erum ekki į móti »ķsköldu sturtubaši«

InLove  enda er žaš örugglega žęgilegra en MND  InLove 

 

Viš skorum hins vegar į alla landsmenn, aš styšja MND-rannsóknir meš fjįrframlögum, óhįš hvernig žvottavenjur menn hafa tamiš sér.

 
 
 

  


Persónuvernd: Bréf til Ķslendskrar erfšagreiningar vegna söfnunar lķfsżna.

 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

Persónuvernd: Bréf til Ķslendskrar erfšagreiningar vegna söfnunar lķfsżna.

Fyrst birt hjį Persónuvernd 15.05.2014.

    



Efni: Söfnun lķfsżna frį einstaklingum sem bošin er žįtttaka ķ samanburšarhópi vegna erfšarannsókna.

Persónuvernd vķsar til fundar stofnunarinnar meš fulltrśum Ķslendskrar erfšagreiningar ehf. 13. maķ sl. žar sem rędd var framkvęmd viš söfnun lķfssżna frį einstaklingum sem bošin er žįtttaka ķ samanburšarhópi vegna erfšarannsókna į vegum fyrirtękisins. Žį var mįliš rętt į fundi stjórnar Persónuverndar sem haldinn var sama dag.

Fyrir liggur aš kynningarbęklingur var sendur stórum hluta landsmanna įsamt samžykkisyfirlżsingu og bśnaši til sżnatöku. Žį liggur fyrir aš ķ beinu framhaldi af žvķ gengu björgunarsveitarmenn ķ hśs til aš safna sżnum frį einstaklingum sem veitt höfšu samžykki sitt.

Į bls. 1 ķ kynningarbęklingnum segir aš umrędd söfnun lķfsżna „hafi hlotiš leyfi Vķsindasišanefndar og Persónuverndar“. Af žvķ tilefni skal tekiš fram aš söfnunin sem slķk hefur ekki hlotiš sérstakt leyfi frį Persónuvernd, enda er hśn ekki hįš slķku leyfi frį stofnuninni ef hśn byggist į upplżstu samžykki žįtttakenda, sbr. 7. tölul. 4. gr. reglna nr. 712/2008 um tilkynningarskylda og leyfisskylda vinnslu persónuupplżsinga. Į hinn bóginn hefur Persónuvernd eftirlit meš žvķ samkvęmt įkvęšum laga nr. 77/2000 um persónuvernd og mešferš persónuupplżsinga hvernig framkvęmd er hįttaš viš öflun lķfsżna og upplżsts samžykkis fyrir vinnslu persónuupplżsinga vegna vķsindarannsókna.

Komiš hefur fram aš mjög skammur tķmi leiš, jafnvel örfįir dagar, frį žvķ aš umręddur kynningarbęklingur barst einstaklingi į heimili hans žar til komiš var aš sękja samžykkisyfirlżsingu og lķfsżni. Stofnunin bendir į aš viš öflun upplżsts samžykkis til vinnslu viškvęmra persónuupplżsinga ķ žįgu vķsindastarfs veršur aš huga aš žvķ aš viškomandi einstaklingar hafi nęgt rįšrśm til aš kynna sér vandlega samžykkisgögn sem ķ žessu tilviki eru mjög ķtarleg. Ķ žessu sambandi mį benda į 3. gr. reglna nr. 170/2001 um žaš hvernig afla skal upplżsts samžykkis fyrir vinnslu persónuupplżsinga  ķ vķsindarannsókn į heilbrigšissviši. Segir žar aš žegar vilji žįtttakenda ķ vķsindarannsókn sem hafa veriš valdir śr Žjóšskrį er kannašur bréflega og višeigandi upplżsingar hafa veriš sendar um rannsóknina, skuli aš minnsta kosti ein vika lķša žar til sent er annaš bréf eša haft samband sķmleišis til aš ķtreka boš um žįtttöku.

Persónuvernd bendir į aš ęskilegt hefši veriš aš lengri tķmi liši frį sendingu samžykkisgagna žar til söfnun lķfsżna hófst. Hins vegar telur stofnunin aš einnig verša aš lķta til žess aš óvenjumikil žjóšfélagsumręša hefur įtt sér staš um žessa lķfsżnasöfnun. Ętla veršur ķ ljósi žeirrar umręšu aš žeim sem ritušu undir samžykki viš framkvęmd söfnunarinnar hafi gefist sérstakt tilefni til aš ķhuga hvort žeir vilji aš samžykkiš standi eša vilji nżta sér rétt sinn til aš draga žaš til baka, en ķtarlegar leišbeiningar fylgdu bęklingnum um afturköllun samžykkis. Ķ ljósi žess telur Persónuvernd, eins og į stendur, aš ekki sé tilefni til sérstakra ašgerša ķ tengslum viš umžóttunartķma umręddra einstaklinga.

Aš lokum skal tekiš fram aš hér er um įbendingu aš ręša varšandi framkvęmd söfnunarinnar en ekki endanlega śrlausn um öll žau įlitaefni sem į getur reynt ķ tengslum viš gildi umręddra yfirlżsinga um samžykki, en žau geta eftir atvikum fremur heyrt undir vķsindasišanefnd en Persónuvernd. Žį er męlst til žess aš framvegis verši žess gętt aš einstaklingum, sem bošin er žįtttaka ķ vķsindarannsóknum į vegum Ķslenskrar erfšagreiningar ehf. og samstarfsašila, verši įvallt meš skżrum hętti veittur kostur į lįgmarks umžóttunartķma. Er žess óskaš aš félagiš sendi Persónuvernd tillögur žar aš lśtandi eigi sķšar en 11. jśnķ nk.

    

Therapy Slows Onset and Progression of ALS (Amyotrophic Lateral Sclerosis)

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

Therapy Slows Onset and Progression of ALS (Amyotrophiv Lateral Sclerosis.

Fyrst birt 09.09.2013 hjį Nationwidw Children's Hospital.

    

 

Studies of a therapy designed to treat amyotrophic lateral sclerosis (ALS) suggest that the treatment dramatically slows onset and progression of the deadly disease, one of the most common neuromuscular disorders in the world. The researchers, led by teams from The Research Institute at Nationwide Children’s Hospital and the Ludwig Institute at the University of California, San Diego, found a survival increase of up to 39 percent in animal models with a one-time treatment, a crucial step toward moving the therapy into human clinical trials.

The therapy reduces expression of a gene called SOD1, which in some cases of familial ALS has a mutation that weakens and kills nerve cells called motor neurons that control muscle movement. While many drug studies involve only one type of animal model, this effort included analysis in two different models treated before and after disease onset. The in-depth study could vault the drug into human clinical trials, said Brian Kaspar, PhD, a principal investigator in the Center for Gene Therapy at Nationwide Children’s and a senior author on the research, which was published online Sept. 6 in Molecular Therapy.

“We designed these rigorous studies using two different models of the disease with the experimenters blinded to the treatment and in two separate laboratories,” said Dr. Kaspar, who collaborated on the study with a team led by Don Cleveland, PhD, at the University of California, San Diego. “We were very pleased with the results, and found that the delivery approach was successful in a larger species, enabling us to initiate a clinical translational plan for this horrible disease.”

There currently is no cure for ALS, also called Lou Gehrig’s disease. The Centers for Disease Control and Prevention estimates there are about 5,000 new cases in the U.S. each year, mostly in people age 50 to 60. Although the exact cause of ALS is unknown, more than 170 mutations in the SOD1 gene have been found in many patients with familial ALS, which accounts for about 2 percent of all cases.

SOD1 provides instructions for making an enzyme called superoxide dismutase, which is found throughout the body and breaks down toxic molecules that can be damaging to cells. When mutated, the SOD1 gene yields a faulty version of the enzyme that is especially harmful to motor neurons. One of the mutations, which is found in about half of all familial ALS patients, is particularly devastating, with death usually coming within 18 months of diagnosis. SOD1 has also been implicated in other types of ALS, called sporadic ALS, which means the therapy could prove beneficial for larger numbers of patients suffering with this disease.

Earlier work by Dr. Kaspar and others found that they could halt production of the mutated enzyme by blocking SOD1 expression, which in turn, they suspected, would slow ALS progression. To test this hypothesis, the researchers would not only need to come up with an approach that would block the gene, but also figure out how to specifically target cells implicated in the disease, which include motor neurons and glial cells. What’s more, the therapy would preferably be administered noninvasively instead of direct delivery via burr holes drilled into the skull.

Dr. Kaspar’s team accomplished the second part of this challenge in 2009, when they discovered that adeno-associated virus serotype 9 (AAV9) could cross the blood-brain barrier, making it an ideal transport system for delivering genes and RNA interference strategies designed to treat disease.

In this new work, funded by the National Institutes of Health, the researchers blocked human SOD1, using a technology known as short hairpin RNA, or shRNA. These single strands of RNA are designed in the lab to seek out specific sequences found in the human SOD1 gene, latch onto them and block gene expression.

In one of the mouse models used in the study, ALS develops earlier and advances more quickly. In the other, the disease develops later and progresses more slowly. All of the mice received a single injection of AAV9-SOD1-shRNA before or after disease onset.

Results showed that in the rapid-disease-progressing model, mice treated before disease onset saw a  39 percent increase in survival compared to control treated mice. Strikingly, in mice treated at 21 days of age, disease progression was slowed by 66 percent. Perhaps more surprising was the finding that even after symptoms surfaced in these models, treatment still resulted in a 23 percent increase in survival  and a 36 percent reduction in disease progression. In the slower-disease-onset model, treatment extended survival by 22 percent and delayed disease progression by 38 percent.

“The extension of survival is fantastic, and the fact that we delayed disease progression in both models when treated at disease onset is what drives our excitement to advance this work to human clinical trials,” said Kevin Foust, PhD, co-first author on the manuscript and an assistant professor in neurosciences at The Ohio State University College of Medicine.

In addition to the potential therapeutic benefit, the study also offers some interesting insights into the biological underpinnings of ALS. The role of motor neurons in ALS has been well documented, but this study also highlighted another key player—astrocytes, the most abundant cell type in the human brain and supporters of neuronal function.

“Recent work from our collaborator Dr. Cleveland has demonstrated that astrocytes and other types of glia are as important if not more important in ALS, as they really drive disease progression,” said Dr. Kaspar. “Indeed, in looking at data from mice, more than 50 percent of astrocytes were targeted throughout the spinal cord by this gene-delivery approach

Ideally, a therapy would hit motor neurons and astrocytes equally hard. The best way to do that is to deliver the drug directly into the cerebrospinal fluid (CSF), which would reduce the amount of SOD1 suppression in cells outside the brain and reduce immune system exposure to AAV9—elements that would add weight to an argument for studying the drug in humans.

Injections directly into CSF cannot be done easily in mice, so the team took the study a crucial step further by injecting AAV9-SOD1-shRNA into the CSF of healthy nonhuman primates. The results were just as the team hoped—the amount of gene expression dropped by as much as 90 percent in motor neurons and nearly 70 percent in astrocytes and no side effects were reported, laying the groundwork towards moving to human clinical trials.

“We have a vast amount of work to do to move this toward a clinical trial, but we’re encouraged by the results to date and our team at Nationwide Children’s and our outstanding collaborators are fully committed to making a difference in this disease,” Dr. Kaspar said.

The findings could impact other studies underway in Dr. Kaspar’s lab, including research on Spinal Muscular Atrophy, an often fatal genetic disease in infants and children that can cause profoundly weakened muscles in the arms and legs and respiratory failure.

“This research provides further proof of targeting motor neurons and glial cells throughout the entire spinal cord for treatment of Spinal Muscular Atrophy and other degenerative diseases of the brain and spinal cord, through a less invasive manner than direct injections,” said Dr. Kaspar, who also is an associate professor of pediatrics and neurosciences at The Ohio State University College of Medicine.

 


Swelling of feet and legs - vandamįl margra MND sjśklinga

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

Swelling of feet and legs - vandamįl margra MND sjśklinga.

Fyrst birt hjį Diane Huberty.

    

Diane Huberty.

Note: Although the information here is useful for anyone with swollen feet, it is intended for people with an ongoing problem with swelling of feet and legs due to being unable to walk.  If this is not your situation, please consult your doctor to determine the cause and treatment of your swelling. If there is swelling or puffiness of your fingers or around your eyes, see your doctor promptly.

The Cause of the Swelling.

The heart pumps blood through the arteries under high pressure. As the arteries branch out into smaller arteries and then into tiny capillaries, pressure decreases. Oxygen is removed from the blood in the capillaries and then the "used" blood flows into veins for the trip back to the lungs for another load of oxygen. Unfortunately, the pressure generated by the heartbeat has been lost by then and the blood relies on simple back pressure to move back up to the heart. This is aided by muscle activity. Ordinary muscle movement "squeezes" the veins and pushes the blood along. The veins have little one-way valves all along the way that keep blood from draining backward as it is pushed upwards.

When muscle movement is lost, it becomes much harder to get the blood back up from the legs. It pools in the veins and causes them to get distended. Water seeps from distended veins out into the surrounding tissue and your legs and feet swell (edema). With repeated episodes of swelling, the little veins become damaged and leaky so that water seeps into the tissues even more easily. At the same time, the valves are collapsing under the heavy weight of all that blood that is pooled on top of them. That damage to the valves is permanent. Without the valves, the blood pools in the feet even worse than before and remaining valves are under even more pressure and more likely to fail.

Treatments.

Doctors aren't very good about helping with swelling. The first thing they will say is to put your legs up to minimize the swelling but they don't tell you how to do that effectively. They will offer prescriptions for TED hose (somewhat helpful) and "water pills" (which should be used as a last resort only).

The first thing to look at is the chairs you sit in.  A recliner may seem like the ideal way to keep your feet up and swelling down but it is NOT! There are two big problems with most recliners. First, the footrest section is made in such a way that all the weight of your legs rests on the calves. That is really bad for circulation. Second, putting your feet up - even way, way up - without "unfolding" at the hips is very minimally helpful, possibly even detrimental, as that bend interferes with the already difficult job of moving blood upward to your heart. Lift chairs are wonderful and most of them are recliners, but if you spend most of your time in a recliner, I strongly recommend that you bring the footrest up only when you lower the backrest.

Whether you sit in a regular chair, recliner, or a wheel chair, it must be properly fitted to you. You need to make sure that your leg to floor/footrest distance is short enough that there is minimal pressure at the back of the lower thigh and knee. Having your feet "dangle" is a sure-fire way to cause swelling!  Put a box/platform under your feet (an old hard side suitcase worked great for me - lightweight and had a handle) or raise your footrest an inch or so. The objective is to make certain there is minimal pressure on the back of your knees/thighs. If you add a ROHO or other cushion you need to adjust your platform/footrest  upward to make up for the height of the cushion.

The fastest and easiest way to reduce swelling is to spend most of the night with your feet elevated. A hospital bed or adjustable bed makes elevating your feet easier, but adding pillows is cheaper. Remember that the point is to get your feet up as high as your heart, not your knees. A hospital bed actually lifts your knees so an extra pillow or two under your feet is needed.

Sleeping with your feet and head up defeats the purpose. (And sleeping sitting up is going to cause a bedsore on your tail bone. Also, your lungs need a change from a sitting position. Lying flat and turning from side to side moves the secretions in your lungs around and makes them easier to cough out and keeps your lungs healthier.) With the onset of breathing problems, this will make breathing more difficult. This is the time when when BiPAP has to be used. For many people this is big step in accepting the fact that living with ALS requires adaptations in order to be comfortable.

The best treatment for leg swelling that I have found is something that I discovered entirely by accident: More time in bed. When my husband was working, I spent about seven hours in bed at night and then would lie back in my recliner for another two or three hours in the afternoon. Even with that, my legs were swollen by noon, miserably uncomfortable by evening and absolutely painful by bedtime. When my husband retired, I was able to go to bed at the usual time, listen to books on tape for an hour or two, and then sleep late in the morning. Instead of spending 10 hours lying with my feet up in two separate sessions, I began spending 10 hours or more in bed all at one stretch. Within a matter of days after starting this routine, I noticed that the swelling was minimal. Now I don't even have to lie down in the afternoon in order to be comfortable in the evening! I don't know if this is due to spending more time lying down at one stretch, spending all my lying down time in a bed rather than a recliner, getting more sleep, or some combination of the three. All I know is that in this has made an incredible difference for me. Not only has it made my problems with swelling minimal, I feel better in general.

Another thing that helps is muscle activity. Granny's old rocking chair served a real purpose beside putting babies to sleep! I find that the swelling is minimized on days when I am most active. (Interpret that as days when I am frequently hauled in and out of my chair and forced to stagger a few steps, whining all the way!) I guess I have some muscles left in my legs, even though I sure can't feel 'em!  Even passive range of motion exercises help.

Keep cool. A few minutes of being too warm, toasting my feet by the fire,or just sitting in the summer sun is all it takes to turn my feet into balloons. (Blood vessels dilate when we are warm.) Simply keeping my legs in the shade makes a difference, but  I have also been known to pour cold water over my feet on hot days when I need to be outside.  Wet socks and tennis shoes are still more comfortable than that miserable burning sensation of swollen feet!

Sometimes I also have problems with a burning sensation in my feet in bed at night. It doesn't start until my feet began to warm up. It can get really bad in the middle of the night if I have the electric blanket on and my feet get really warm. That is a real nuisance because the rest of my body gets really chilled and I can't move at all if I pile on extra blankets. So, in cold weather I end up sleeping with the electric blanket on, but my feet sticking out!

For some people, this burning pain becomes severe and doesn't seem to be relieved by getting the swelling down.  This might be the end result of long term or severe swelling. Some people find that aspirin (not tylenol) helps. Do not take aspirin if you are on anticoagulants (medications to thin the blood). If burning pain is felt when swelling has not been a problem, discuss it with your neurologist.

Limiting salt intake used to be high on the list of things to do to minimize swelling, and your doctor may suggest it, but the need for that is questioned these days. I guess it is enough to say don't over-indulge with salty foods.

Hospitals often use devices to improve blood flow to the feet of patients who are going to be stuck in bed for a while in order to  reduce the risk of blood clots. TED (elastic or compression) stockings are by far the most common. By simply  squeezing the legs and feet a little, they help keep the veins from getting distended.  You can ask your doctor for a prescription for these stockings to get insurance to pay, or buy them at a drug store, or quite cheaply on eBay. Unless you have strong hands and arms, you will need help getting them on.

Hospitals also use types of "boots" that inflate and deflate to help pump the blood along. One study showed that simple alternating pressure on the soles of the feet greatly improves flow, so some brands of boots simply apply waves of pressure to the bottom of the foot. With help from your doctor you may be able to get your insurance to cover the cost of this equipment. It is not complicated to use, but you must be very careful to make sure that it is not rubbing anywhere and causing breakdown of the skin.

If you complain about swollen ankles and feet to your doctor, odds are he will whip out the old prescription pad and put you on diuretics. I have real reservations about this because many of us are borderline dehydrated half the time anyway. (Another contributing factor for the development of blood clots.) It gets hard to reach a drink, or hard to swallow, or it is simply too hard to get to the bathroom so we don't drink as much as we should. Diuretics cause your kidneys to remove more water from your blood stream. The "thicker" blood is then able to "sponge up" more water on its travels through the body so it does reduce the edema. It does nothing about the cause of the edema -- poor blood flow – however. Using diuretics for swollen legs is kind of like taking a diuretic to lose weight - sure it "works", but it doesn't really solve the problem.

I certainly won't say diuretics should never be used -- if nothing else works well enough to keep the swelling under control, they need to be used because the swelling further damages the veins and valves and the situation just gets worse. But all the things described above should be implemented first before diuretics are even considered.


Clinical Spectrum of Motor Neuron Disorders

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

 

Clinical Spectrum of Motor Neuron Disorders.

Fyrst birt hjį American Academy of Neurology ķ febrśar 2009.

 

  

Richard J. Barohn.

Abstract: The differential diagnosis of amyotrophic lateral sclerosis (ALS) includes a number of acquired or inherited disorders causing degeneration of lower and/or upper motor neurons. It is important to consider these diagnoses in the appropriate clinical context because the prognosis is often better, and, in certain situations, specific treatments may be available. Many of the inherited motor neuron syndromes have characteristic clinical presentations that facilitate their recognition. Alternatively, features of the clinical presentation may be atypical for ALS, which should lead to investigation of alternative diagnoses. This chapter will review the clinical features of motor neuron syndromes that comprise the differential diagnosis of ALS and will provide guidelines for their diagnostic investigation.

Key Points:

  • Motor neuron disease is characterized by degeneration of upper motor neurons (UMNs) (corticospinal tract), lower motor neurons (LMNs) (anterior horn cells and cranial nerve motor nuclei), or both. ALS, in which patients have both anterior horn cell and corticospinal tract dysfunction, is the most common form of motor neuron disease.

  • Progressive muscular atrophy, primary lateral sclerosis (PLS), and progressive bulbar palsy are motor neuron disorders in which the degeneration is limited to the LMNs, UMNs, and bulbar musculature, respectively. The differential diagnosis, clinical course, and prognosis are distinct for these motor neuron disease syndromes compared with ALS, making their recognition clinically important.

  • The El Escorial criteria classify ALS into definite, probable, clinically possible, and clinically probable categories based on the number of body regions with clinical findings of UMN and LMN dysfunction.

  • In patients with suspected ALS who have multisegmental UMN and LMN findings and a progressive course, without significant sensory or sphincter abnormalities, further laboratory studies are unlikely to yield an alternative diagnosis.

  • In patients with suspected ALS and a typical clinical presentation, laboratory studies to exclude other diagnostic possibilities may be very limited. More extensive laboratory testing should be reserved for more atypical presentations-pure UMN or LMN syndromes, disease of early onset or prolonged duration, evidence of a coexistent systemic illness, or the presence of sensory or urinary symptoms.

  • In typical ALS presentations, the yield of a lumbar puncture for CSF examination is low. CSF evaluation is reserved for patients in whom meningeal inflammatory or infiltrative disease is suspected clinically.

  • All patients with MND should undergo EMG and nerve conduction studies. The purpose of electrophysiologic testing is to confirm the presence of a multisegmental motor axonopathy and to search for evidence of an alternative diagnosis.

  • A clinical diagnosis of ALS is supported by evidence of denervation (LMN dysfunction) on needle EMG in at least two of the following regions: brainstem (bulbar/cranial motor neurons), cervical, thoracic, or lumbosacral spinal cord.

  • MRI of the brain and/or spinal cord is done to look for evidence of a tumor, syrinx, herniated cervical spinal disk, or cervical spondylosis with spinal cord compression. Cervical MRI is particularly important in patients with limb disease and no bulbar findings to exclude cervical radiculomyelopathy.

  • Muscle biopsy is rarely necessary in most cases of ALS but may be considered if there is a suspicion of myopathy based on clinical or EMG findings.

  • The clinical manifestations of PLS include adult onset, progressive leg weakness and spasticity, spastic bulbar palsy, and hyperreflexia without sensory signs. Spastic weakness may progress asymmetrically.

  • Bulbar symptoms in PLS usually manifest first as dysarthria, followed by dysphagia, and may evolve to emotional lability and inappropriate laughing or crying (pseudobulbar affect). Dysarthria can progress to anarthria.

  • Other reported clinical features in patients with PLS include eye movement abnormalities, urinary dysfunction, and cognitive impairment.

  • PLS tends to follow a very slowly progressive course, a key distinguishing it from ALS. Whereas the average life expectancy for patients with ALS is about 3 years, longevity data for PLS are incomplete. Among PLS patients with reported deaths, survival reports range from 1 to 15 years after onset.

  • Needle EMG findings in PLS should show no evidence of LMN dysfunction. However, recently reported series and criteria allow for electrophysiologic evidence of mild denervation manifest as occasional fibrillations and increased insertional activity in a few muscles.

  • The hereditary spastic paraplegias merit particular consideration in the differential diagnosis of patients presenting with progressive spastic limb weakness. The absence of family history, typical onset in middle age or later life, and bulbar involvement would make this possibility less likely.

  • For patients with progressive purely UMN symptoms acquired in middle age or later, the two main diseases to consider are ALS and PLS. ALS is more common and is usually the ultimate diagnosis.

  • The distinction between an immunemediated neuropathy, such as multifocal motor neuropathy, and motor neuron disease can usually be readily made on the basis of a thorough history and neurologic examination and supported by electrophysiologic studies.

  • Patients with an idiopathic purely LMN disorder are typically referred to as having progressive muscular atrophy (PMA). A significant proportion of patients with PMA actually have ALS and just lack clinical evidence of UMN involvement.

  • PMA comprises approximately 10% of patients with motor neuron disease, being slightly more common in men, with an earlier mean age of onset. Patients receiving the diagnosis of PMA represent a mixed group: patients who have ALS but lack clinical features of UMN involvement as well as patients with a purely LMN disorder (more favorable prognosis).

  • In adult-onset spinal muscular atrophy, patients typically present with symmetric proximal or generalized weakness and fasciculations, with sparing of the bulbar and respiratory muscles. Inheritance may be either autosomal dominant or recessive.

  • X-linked bulbospinal neuronopathy (Kennedy disease) presents with a limb-girdle distribution of muscle weakness and bulbar symptoms with onset typically in the fourth or fifth decade of life. Distinguishing clinical features include facial/perioral fasciculations, gynecomastia, hyporeflexia, hand tremor, and tongue atrophy with a characteristic midline furrow.

  • Monomelic amyotrophy is a rare disorder in which motor neuron degeneration is limited to a single or several myotomes (usually C5 to T1) within a single extremity. Progression usually occurs for 1 to 3 years followed by disease stability. The mean age of onset is typically 20 to 35 years with a male predominance.

  • "Flail arm syndrome" is an MND regional variant consisting of weakness exclusively confined to the upper extremities. Average survival is approximately 5 years, compared with 3 years for patients with ALS.

  • In the flail arm syndrome clinical phenotype, if weakness remains confined to the arms for at least 18 months, usually no clinically significant progression outside of the upper extremities occurs and survival is quite prolonged.

 

 


Skżrslur: Primary Lateral Sclerosis

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 

  

Skżrslur um Primary Lateral Sclerosis

2012

CLINICAL EVOLUTION OF PURE UPPER MOTOR NEURON DISEASE/DYSFUNCTION (PUMND)

2010

The Stripe of Primary Lateral Sclerosis

2010

Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees

2010

Natural history of upper motor neuron-dominant ALS

2009

Differentiation of Hereditary Spastic Paraparesis From Primary Lateral Sclerosis in Sporadic Adult-Onset Upper Motor Neuron Syndromes

2009

CLINICAL SPECTRUM OF MOTOR NEURON DISORDERS

2009

Usage of support services in primary lateral sclerosis

2009

Progression in primary lateral sclerosis: A prospective analysis

2008

Pure primary lateral sclerosis—Case reports

2008

A Locus for Primary Lateral Sclerosis on Chromosome 4ptel-4p16.1

2007

Differentiation Between Primary Lateral Sclerosis and Amyotrophic Lateral Sclerosis

2007

Autosomal dominant primary lateral sclerosis

2007

Decreased Thickness of Primary Motor Cortex in Primary Lateral Sclerosis

2006

Hereditary Spastic Paraplegia

2006

Monozygotic twins discordant for primary lateral sclerosis

2005

Primęr lateralsklerose

2005

Primary lateral sclerosis, hereditary spastic paraplegia, and mutations in the alsin gene: Historical background for the first International Conference

2003

Primary lateral sclerosis: a rare upper-motor-predominant form of amyotrophic lateral sclerosis often accompanied by frontotemporal lobar degeneration with ubiquitinated neuronal inclusions?

2001

Primary lateral sclerosis: clinical, neurophysiological, and magnetic resonance findings

2001

Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature

1998

Primary Lateral Sclerosis: A Case report with SPECT (Single Photon Emission Computed Tomography) Study

1992

Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria

Kįri Stefįnsson: Aš bjarga eša bjarga ekki mannslķfum

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

  

Kįri Stefįnsson: Aš bjarga eša bjarga ekki mannslķfum.

Fyrst birt ķ Morgunblašinu 17. maķ 2013.

    



Kįri Stefįnsson.

Vķsindamenn Ķslendskrar efšagreiningar hafa unniš aš rannsóknum į erfšum fjölmargra sjśkdóma į sķšustu sautjįn įrum og hafa lagt töluvert af mörkum til žess fjölda meingena sem hafa uppgötvast į žvķ tķmabili. Žeir hafa einnig öšlast mikiš innsęi inn ķ žaš hvernig Ķslendsk erfšamengi eru samansett og gętu žar af leišandi sagt fyrir um žaš meš mikilli vissu hvort einstaklingar hżsi stökkbreytingar ķ genum sem geta leitt til illvķgra sjśkdóma eins og įkvešinna krabbameina. Flest žessara krabbameina eru žess ešlis aš žau deyša žann sem greinist meš žau nema žau greinist snemma eša gripiš sé inn ķ įšur en žau greinast.

Žar af leišandi vęri hęgt aš bjarga mannslķfum ef hęgt vęri aš bera kennsl į žį sem hafa stökkbreytingar sem auka lķkur į žessum meinum. Ég hef bent heilbrigšisyfirvöldum į Ķslandi į žann möguleika sem felst ķ getu okkar til žess aš finna žessa arfbera en hef talaš fyrir daufum eyrum eša mįlinu hefur veriš vķsaš til nefnda sem hafa komist aš raun um aš réttast sé aš gera ekkert og leyfa žessu fólki aš deyja sķnum drottni óįreitt vegna žess aš įreitiš af žvķ aš vita af hęttunni vegi žyngra en möguleikinn į žvķ aš bjarga lķfi žess.

Žegar fręg bandarķsk leikkona sem įtti móšur sem dó af völdum krabbameins ķ brjósti komst aš žvķ aš hśn vęri meš stökkbreytingu ķ BRCA1 sem fylgdu 87% lķkur į žvķ aš hśn fengi banamein móšur sinnar og lét fjarlęgja śr sér bęši brjóstin og sagši frį žvķ ķ New York Times, spruttu upp miklar umręšur um brjóstakrabbameinsgen um allan heim og ekki sķst į Ķslandi. Žaš mį leiša aš žvķ rök aš umręšan į Ķslandi standi į žremur fótum, ķ fyrsta lagi stašreyndum, ķ öšru lagi tilfinningum og ķ žrišja lagi skošunum. Skošanirnar byggjast lķklega jafnmikiš į tilfinningunum og stašreyndunum og er žaš ekki endilega slęmt. Viš getum hins vegar gengiš śr skugga um aš stašreyndirnar standi undir nafni eša séu réttar en tilfinningarnar og skošanir eru bara; žęr eru hvorki réttar né rangar.

Vķsindamenn ĶE gętu fundiš ķ kringum 2.400 Ķslendinga sem bera stökkbreytingu ķ BRCA2-geninu sem styttir lķf kvenna aš mešaltali um tólf įr og karla um žrjś. Žetta er stašreynd žrįtt fyrir aš landlęknir hafi lįtiš hafa žaš eftir sér ķ vištölum aš viš gętum žetta ekki. Žaš er aš vķsu rétt sem hann hefur sagt aš žaš sé įkvešin óvissa ķ įkvöršun į žessu, en žaš į viš um allar męlingar, hvort sem žęr eru geršar ķ tengslum viš lęknisfręši eša ekki. Žaš mętti hins vegar minnka žį óvissu nišur ķ nęstum ekki neitt meš žvķ aš arfgeršargreina į nżjan leik alla žį sem viš bęrum kennsl į. ĶE gęti gert žaš fljótt og samfélaginu aš kostnašarlausu. Ef žetta vęri gert mętti bjóša žeim konum sem bera BRCA2-stökkbreytinguna og eru ķ brįšri hęttu į žvķ aš fį brjóstakrabbamein upp į nįkvęmt eftirlit og jafnvel ašgerš sem gęti minnkaš krabbameinshęttuna nišur fyrir mešalįhęttu žeirra sem bera ekki stökkbreytinguna.

En til žess aš viš getum boriš kennsl į einstaklinga žarf samfélagiš aš vilja žaš og leyfi žarf aš fįst frį Persónuvernd og Vķsindasišanefnd. Öll gögn sem ĶE bżr yfir eru į dulkóšušum kennitölum og hefur veriš aflaš til žess aš vinna aš vķsindarannsóknum, sem hafa hlotiš leyfi Persónuverndar og Vķsindasišanefndar og žaš verša ekki borin kennsl į žatttakendur öšru vķsi en ķ gegnum lykil sem er ķ forsjį Persónuverndar. Žaš eru einkum tvenn meginrök sem hafa heyrst gegn žvķ aš hafa beint samband viš arfbera BRCA2-stökkbreytingarinnar.

Ķ fyrsta lagi mętti leiša aš žvķ rök aš žaš vęri aš vissu leyti brot į samningi milli ĶE og žįtttakendanna ef gögn um žį vęru notuš ķ klķnķskum tilgangi. Ķ annan staš eigi arfberarnir rétt į žvķ aš vita ekki hvort žeir hżsi stökkbreytinguna. Žessar röksemdir lśta annars vegar aš mikilvęgum rétti žįtttakendanna sem eiga aš rįša mestu um žaš hvernig upplżsingar um žį eru notašar og hin aš mikilvęgum rétti okkar allra til žess aš hafa val um žaš hverju er snśiš aš okkur.

Ķ bįšum tilfellum er um aš ręša mikilvęgan rétt en ķ hvorugu tilfellanna rétt sem er įn vafa mikilvęgari en allt annaš. Ég held žvķ fram aš ķ bįšum tilfellum sé um aš ręša rétt sem er trompašur af mikilvęgi žess aš geta bjargaš lķfi arfberanna sem eru ķ geigvęnlegri hęttu. Žetta er mķn skošun sem ég styš til dęmis meš tveimur röksemdum, annarri śr sišfręšinni og hinni śr hefš ķ Ķslendsku samfélagi.

Sišfręširöksemdin: Ein af žeim spurningum sem sišfręšingar nota oft sem dęmi um skyldur sem į okkur hvķla er hvort aš sį mašur sem hrindi öšrum fram af bryggjunni žannig aš hann drukkni sé sekari en sį sem stendur ašgeršarlaus į bryggjusporšinum og horfir į annan mann drukkna sem datt ķ sjóinn af eigin rammleik. Svariš er oftast aš žaš sé ķ sjįlfu sér ekki mikill munur. Okkur ber skylda til žess aš bjarga lķfi ef viš getum žaš žótt žaš megi sjįlfsagt deila um žaš hversu mikla įhęttu okkur beri aš taka viš björgunina. Samkvęmt žessu bęri žįtttakendunum ķ rannsóknum ĶE skylda til žess aš bjarga lķfi arfberanna og réttur žeirra til žess aš takmarka notkun gagnanna hlyti aš vķkja. Ķ žessu tilfelli vęri įhęttan sem žįtttakendurnir tękju nįkvęmlega engin.

Dęmi śr Ķslendsku samfélagi: Ef rjśpnaskytta skilar sér ekki heim aš kveldi sendum viš leitarflokka eftir henni įn žess aš spyrja hana leyfis žótt reynslan sżni aš žaš séu töluvert minni lķkur į žvķ aš hśn verši śti en aš arfberi BRCA2-stökkbreytingar deyi śr brjóstakrabbameini. Žetta gerum viš vegna žess aš okkur žykir réttur skyttunnar til žess aš taka sjįlf įkvöršun um framvindu mįla léttvęgur mišaš viš naušsyn žess aš koma henni til byggša. Viš merkjum sķgarettupakka meš hótunum um dauša eša alvarlega sjśkdóma žótt ekki séu nema 14,5% lķkur į žvķ aš einstaklingur sem reykir til langframa fįi lungnakrabbamein og viš brjótum žar meš rétt žeirra reykingamanna sem ekki vilja vita. Žetta gerum viš vegna žess aš viš vonumst til žess aš meš žvķ aš brjóta žennan rétt į hundraš prósentum reykingamanna getum viš fękkaš žeim og žar meš minnkaš žann fjölda sem felst ķ žessum 14,5%.

En BRCA2 er ekki eina dęmiš um erfšavķsi meš stökkbreytingu sem eykur mjög hęttuna į banvęnum sjśkdómi sem viš gętum aušveldlega stašsett mešal Ķslendinga og į žann mįta bśiš til forsendur fyrir žvķ aš bjarga mannslķfum. Taflan hér aš nešan er meš sex dęmi śr krabbameinsheiminum. Viš erum žar aš auki meš mżmörg slķk dęmi śr annars konar sjśkdómum.

Stökkbreytingar ķ krabbameinsgenum

Mķn skošun er sś aš Ķslendsk žjóš eigi aš nżta sér žennan möguleika į žvķ aš bjarga sķnum frį grimmum örlögum. Mér finnst aš viš eigum aš lįta einstaklinga vita frekar en aš segja žeim aš žeir geti leitaš sér upplżsinga. Ég byggi žessa skošun į röksemdunum hér aš ofan og žeim ótta mķnum aš žaš verši of margir arfberar sem ekki hafi uppburši ķ sér til žess aš leita upplżsinganna. Žessi ótti į rętur sķnar ķ žvķ aš bżsna stór hundrašshluti žeirra sem vita aš žeir eru ķ brjóstakrabbameins fjölskyldu hafa ekki lįtiš arfgeršargreina sig jafnvel žótt žeim hafi veriš rįšlagt aš gera žaš. Mér finnst aš sś skošun aš rétturinn til žess aš vita ekki sé svo rķkur aš hann komi ķ veg fyrir aš hęgt sé aš gera žetta eigi rętur sķnar ķ steinhjartanu en hér er ég aš tjį skošun sem byggist fyrst og fremst į tilfinningum.



DNA double helix: discovery that led to 60 years of biological revolution

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

  

DNA double helix: discovery that led to 60 years of biological revolution.

Birtist fyrst hjį The Guardian 25. aprķl 2013.

  

  

 

Adam Rutherford.  

On 25 April 1953, Francis Harry Compton Crick and James Dewey Watson published a paper in Nature describing the double helix structure of DNA.

The myth is that science proceeds in fits and starts, with eureka moments delivering revelation and revolution. The reality is usually much more mundane: a case of scientists grinding out small, incremental advances. But the publication 60 years ago of Francis Crick and James Watson's celebrated structure of DNA – the twisted ladder of the double helix – can legitimately be regarded as a turning point: our understanding of life was changed forever that day, and the modern era of biology began.

"It has not escaped our notice," they wrote in a brief paper in the journal Nature, that the double helix "immediately suggests a copying mechanism for the genetic material." And so it does. This elegant spiral, first drawn by Crick's wife Odile, depicts life's most famous molecule. Nowadays it is part of our culture: in films, as art, on shampoo adverts. We now know that DNA is a dynamic, tortuous coil, constantly shuffling and unwinding, bustling with activity as it enacts its many programs.

Since 1953, biology has evolved into a global industry, with our ever-increasing command over DNA at its core. We have seen the emergence of genetic modification and now synthetic biology – for both scientific and commercial gain – each with its own mire of ongoing legal wrangles. And now we are entering the post-DNA era. In the past couple of years, the nature of DNA itself has been modified, its alphabet mutated and its function reinvented for non-biological uses.

DNA's operation is determined by its shape. Each rung of the ladder is made up of a pair of two of the four letters of the DNA alphabet – A, T, C and G. But A will only pair with T, and C only with G. So if you were to split the ladder in two, breaking the paired rungs, then on each of these struts you would have all the information needed to replace the missing one. Hence, from one DNA molecule, you can make two identical molecules. This is happening right now inside you as the cells that make up your body divide, at a rate of around 3,000 letters a minute (bacteria can do it 10 times faster). And the same process has been happening continuously in every cell that has ever existed on Earth. DNA in living cells, as far as we know, is universal, and combined with Darwin's theory of evolution we have a robust model of how life is, and how it came to be, its origins almost 4bn years ago.

DNA is a code, a means of storing biological data, in the form of genes. The code was systematically cracked in the 1960s, revealing that life is breathtakingly conservative. If DNA is an alphabet, then the words it spells out are amino acids, the building blocks of proteins. And yet only 20 amino acids are encoded by DNA in all life forms. The same alphabet, the same encryption, the same lexicon are applied in every bacterium or blue whale, in you, a sunflower and a mushroom.

It is this uniformity that spawned the industrial revolution of biotechnology that we are in the throes of today. In California in the early 1970s, scientists invented ways to swap chunks of DNA between species, so that they acquired specific characteristics by design. Humans have been doing something similar for 10,000 years through breeding and farming, but with the advent of DNA editing tools, we were suddenly no longer bound by the limitations of creatures that could have sex. Genetic modification has become a mainstay of almost every aspect of the life sciences, and provided innumerable advances in our understanding of how life and diseases work.

DNA structure 001

This century, the descendant of genetic modification has emerged as synthetic biology. This takes the principles of gene tinkering, and, just as the pioneers of electronics did, standardises the components so that creating new technologies becomes easier. In the summer, we will see the largest synthetic biology meeting in the world at Imperial College London, where the creators of this rapidly maturing field will gather to turn the remixed tools of evolution into ever-more sophisticated circuitry to address global issues including food, fuel and food production. On paper, this circuitry looks like electronics, with transistor-like junctions and gates. But it is in fact DNA, carefully designed and assembled to perform specific logical functions.

We're 10 years on from the completion of the Human Genome Project, initially led by Watson, the complete read-through of all 3bn letters of our own code. That yielded many surprises, including that we're a long way from understanding how our genomes work. But we also entered the legal swamp of DNA patenting, the idea – currently law – that your genes can be owned by someone else. Two breast cancer genes are the subjects of the key legal test case, which is being addressed by the US supreme court this week, with globally significant ramifications.

The pioneers of genetics changed how science itself is done. The Human Genome Project launched a new style of big science — huge international collaborations with openness as a key principle. Thousands of people in hundreds of labs have worked on generating the various versions of human and other species's genomes over the past few years; last week, the ancient fish the coelacanth became the latest to join the genome club. All the data is in the public domain, to maximise the benefit for as many people as possible.

Our control of the stuff of life is such that we can now eschew DNA's evolved functions altogether. In its simplest form, DNA is an information storage format. It is incredibly stable: we have extracted meaningful DNA from all sorts of long-dead organisms, including mammoths and Neanderthals.

People started thinking about DNA as a data storage device in the 1990s, but it wasn't until 2010 that scientist Craig Venter hid several secret coded messages in the DNA of his synthetic cell, nicknamed Synthia. This field really kicked off in January when a team led by Cambridge geneticist Ewan Birney encoded in DNA all Shakespeare's sonnets, a video of Martin Luther King's "I have a dream" speech, and Crick and Watson's 1953 paper. They sent it to a lab in Germany, where it was decrypted with an error rate of zero.

Currently, this technique is only useful for archiving, because it is slow to write and decode, but the density of information is higher than for Blu-Ray discs or hard drives. We will never not study DNA, so the technology for reading and writing it will only improve. Remember Betamax or laser discs? DNA is a format that has robustly stored data for 4bn years.

While the principles of how living DNA encodes information and duplicates are set in stone, this is no longer true for the molecule itself. In the past few years we have seen startling progress towards reinventing the language of life. That original four-letter alphabet is now up to at least six, with the addition of Z and P by scientists including Steve Benner at the Foundation for Applied Molecular Evolution in Florida. These new letters don't mean anything yet: it is as if we had added letters to English that could not yet be pronounced. But Benner has incorporated them into a molecule whose alphabet has remained frozen for several billion years. Last year a team in Cambridge led by Vitor Pinheiro re-engineered the struts of the double helix ladder, changing the D in DNA to a host of other molecules, under the catch-all title of "XNA". They reproduce, evolve, and have the potential to act as therapeutic drugs, because the body won't recognise them as rogue DNA.

Sixty years on from the first revelation of DNA's shapely curves, no aspect of biology is above modification, remix or redesign. This inevitably comes with accusations of "playing God". Yet this is what we have always done. We have taken the natural world, modified it, shaped it and redesigned it to suit our own needs and wants, often without considering the repercussions. All of these new endeavours are fraught with contention. Gene patenting is one perhaps soon to be resolved. Ownership of GM seeds by corporate monoliths continues to provoke ire from many.

There is a visceral belief in some quarters that we shouldn't be fiddling with nature in such fundamental ways. Nevertheless, DNA technology will continue to grow. But it is our responsibility to allow DNA technology to flourish, while society makes informed decisions about how its fruits are shared. We are in a golden age, an industrial revolution with a single root exactly six decades ago.


Myriad Genetics CEO Claims He Owns Your Genes

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

  

Myriad Genetics CEO Claims He Owns Your Genes.

Birtist fyrst hjį Forbes 13. aprķl 2013.

  

  

Steven Salzberg.

With the Supreme Court about to hear a landmark case on gene patents, Myriad Genetics, the company that owns the patents under scrutiny, is going on the offensive.  I’ve written about this case before, when the patents were first thrown out by one court, and then restored by another. Now the Supremes will have the final say.

Just last week, geneticists Jeffrey Rosenfeld and Chris Mason wrote a commentary for the Washington Post that warned about the consequences of companies owning the rights to our gene sequences.

Today, in a letter filled with non sequiturs and distortions, Myriad Genetics’ CEO Peter Meldrum, worried about whether his company will be able to maintain their monopoly on a test for which they charge $4000, responded.  Let’s look at his claims.

BRCA1 og BRCA2

First, though, let me remind readers that the genes in question, BRCA1 and BRCA2, are linked to an increased risk of breast and ovarian cancer, a risk that was first discovered in 1994 by scientists at the University of Utah. Myriad Genetics owns a patent on these genes, and as I wrote last year:

“Thanks to these patents, you can’t look these genes in your own body without paying a fee to Myriad. Sounds ridiculous, right? Well, that was the state of gene patents until last May [2011], when judge Robert Sweet ruled that the Myriad’s patents were invalid.”

Myriad appealed the decision, and the appeals court overturned Judge Sweet, buying into the argument by Myriad’s lawyers that “isolated DNA” is not the same as the natural DNA, and that this distinction allows companies to patent it.  This is scientific nonsense for many reasons: for one thing, the process of isolating DNA does not create an artificial molecule. The body’s own cells isolate DNA all the time, in the process of turning it into proteins. But the appeals court accepted the argument, so now the Supreme Court will re-examine this scientifically ridiculous claim.

Now let’s look at CEO Meldrum’s letter.  He first claims that Myriad’s patents

“were essential to developing diagnostic tools that have been used by more than 1 million women to understand their hereditary risks of breast cancer and ovarian cancer.”

This claim is simply false.  Myriad’s patents made no contribution at all (and certainly weren’t “essential”) to the diagnostic tools used to detect mutations. I know something about these tools, which I’ve been using in my own research for over 15 years.  Furthermore, academic medical centers were offering their own diagnostic tests on the BRCA genes, at a lower cost than Myriad, until Myriad’s lawyers forced them to stop.  So Myriad’s patents have increased costs to patients and, if anything, slowed down progress on making the tests faster and cheaper.

Second, Meldrum writes:

“Were these molecules derived in part from natural material? Sure. But that is true of many patents. Labs routinely turn naturally found molecules into innovative medicines and get patent protection.”

One’s jaw drops at this irrelevant non sequitur.  Myriad has never created “innovative medicine” or any other sort of medicine.  And the BRCA gene tests are not medicine: they are a diagnostic test that reads your DNA and tells you if you have harmful mutations in two specific genes.  Myriad’s patents have nothing to do with medicines that treat breast and ovarian cancer – although it’s clear that Meldrum would like us to think otherwise.

Third, Meldrum claims:

“Our tests are also accessible; some 95 percent of patients get insurance coverage, and we offer the test for free to those who cannot afford it.”

This too is irrelevant, and also untrue.  The fact that 95% of patients have insurance, even if true, has nothing to do with whether or not genes should be patented.  And this merely hides the fact that Myriad’s test is outrageously overpriced, at $4000 per patient.  The actual costs of testing for this gene should be far lower: we can now sequence an entire genome for $4000, and this test only looks at 2 genes out of more than 20,000.

Meldrum also throws out the unproven claim that Myriad offers it for free to those who cannot afford it.  Really?  Who decides if someone can afford it? If a woman can scrape together the $4000 with great hardship, does Myriad give her a break on the price?  I doubt it.  And what does this have to do with Myriad’s supposed right to own your genes?

Fourth, Meldrum makes the remarkable claim that

“Our patents have also promoted additional research; 18,000 scientists have studied the genes, resulting in 10,000 published papers.”

This is just unfounded bragging.  Even the most wildly successful scientists would be very careful about claiming that that 10,000 papers have been based on their work.  In the case of Myriad, this is just false.  If you do a PubMed search for BRCA1, you can indeed find over 9,600 papers, as I did today.  However, there is no evidence whatsoever that these papers were even remotely supported by Myriad’s patents.  It is far more likely that the patents prevented additional research on the BRCA genes.  The vast majority of research on these genes was supported by the public, which in the U.S. means by the National Institutes of Health.  Meldrum’s boastful claim is absurd.

It’s worth noting that the original paper describing the link between BRCA1 and breast cancer was published by a multi-institutional team from the University of Utah and other places, who were supported by multiple grants from the NIH and from the Canadian government.  Myriad Genetics subsequently licensed the patent rights from Utah, and has used them ever since to maintain its monopoly and prevent others from developing tests on the BRCA genes.  To claim that its patents promote innovation is pure nonsense.

The bottom line is that no one invented your genes, and no private company should be able to tell you that you can’t even read your own DNA.  Today, you can get all of your DNA sequenced for less than the cost of the Myriad test. Using free software (developed by my lab), you can scan that DNA for mutations in BRCA1 and BRCA2. And no company should be able to tell you not to.

Peter Meldrum’s letter reveals that he doesn’t care very much about the truth.  Meldrum made $4.87 million in 2011 as CEO of Myriad, so it’s pretty clear what motivates him. Myriad’s use of its patents to charge exhorbitant prices to women at risk for breast and ovarian cancer does not demonstrate innovation. It just demonstrates greed.


Erfšafręšibyltingin er tękifęri fyrir Ķsland

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

  

Erfšafręšibyltingin er tękifęri fyrir Ķsland.

Birtist fyrst ķ Morgunblašinu 12. aprķl 2013.

  

  

Bjarni Jóhann Vilhjįlmsson.

Įriš 2000 tilkynntu Bill Clinton og Tony Blair sameiginlega aš fyrsta erfšamengi mannsins hefši veriš rašgreint. Meira en įratug tók aš ljśka žessu grķšarlega stóra verkefni og kostnašur viš žaš er nś talinn hafa numiš um žremur milljöršum dollara (375 milljöršum króna). Žessu er réttilega lżst sem einhverju mikilvęgasta vķsindaafreki mannkyns sem markaši tķmamót ķ lķfvķsindum.

Margar góšar įstęšur voru fyrir žvķ aš rįšast ķ žetta stóra verkefni į sķnum tķma. Meš erfšamengi mannsins ķ hendi var hęgt aš öšlast dżpri skilning į lķffręši og ennfremur erfšum algengra sjśkdóma og žannig žróa nżjar mešferšir og lyf gegn sjśkdómum. Annar stór įvinningur var möguleikinn į einstaklingsbundnum lyfjum og lęknismešferšum žar sem erfšir eru hafšar aš leišarljósi viš mešhöndlun sjśkdómsins. Brįtt kom žó ķ ljós aš erfšir algengra sjśkdóma voru flóknari en flestir höfšu spįš. Nżju lyfin og persónulegu lęknismešferširnar hafa žvķ ekki oršiš eins fljótt aš veruleika og sumir vķsindamenn geršu upphaflega rįš fyrir. Nś eru žó teikn į lofti um aš žaš muni brįtt breytast.

Į undanförnum įrum hefur oršiš önnur, en žó hljóšlįtari, bylting ķ erfšafręši. Žessi bylting hefur veriš knśin įfram af grķšarlegum tękniframförum ķ rašgreiningu erfšamengja. Kostnašur viš aš rašgreina einstök erfšamengi einstaklings er nś u.ž.b. 5.000 dollarar (625 žśs. kr.) og žaš tekur innan viš viku aš ljśka greiningunni. Meš žvķ ašeins aš greina breytilega hluta erfšaefnis einstaklinga er hęgt aš fį mjög heildstęša mynd af erfšamenginu fyrir mun minni upphęš, eša 99 dollara (12.500 kr.), sem er žaš verš sem lķftęknifyrirtękiš 23andme (https://www.23andme.com/) tekur fyrir aš erfšagreina einstakling. Žetta er ótrślegt ķ ljósi kostnašarins fyrir 13 įrum žegar Bill Clinton og Tony Blair tilkynntu hiš mikla vķsindaafrek. Žessi bylting hefur leitt til įstands sem lķkist kannski mest upphafi internetsins ķ byrjun tķunda įratugar seinustu aldar, žegar allir žeir möguleikar sem internetiš bauš upp į voru enn ókannašir.

Hvaš žżšir žetta fyrir lęknisfręši framtķšarinnar? Nś er loksins hęgt aš öšlast nokkuš heildstęša mynd af erfšum algengra sjśkdóma meš žvķ aš rašgreina tugi žśsunda einstaklinga. Žetta hefur opnaš fyrir lyfjažróun fyrir skilvirkari og nįkvęmari lyfjamešferšir sem taka miš af erfšaefni einstaklinga. Bęttur skilningur į erfšum sjśkdóma gerir okkur einnig kleift aš bęta nśverandi spįlķkön fyrir sjśkdóma, en nś er nįnast einungis tekiš miš af žekktum įhęttužįttum og sjśkdómstķšni mešal nįinna fjölskyldumešlima. Aš geta einnig tekiš miš af bęši ętterni og erfšaefni einstaklinga getur žvķ haft vķštęk įhrif į lķfslķkur og lķfsgęši einstaklinga. Žetta į t.d. viš um hjartaįföll, offitu, alzheimer, sykursżki, glįku og marga ašra arfgenga sjśkdóma žar sem ingrip ķ tęka tķš geta skipt miklu mįli.

Af hverju er žetta ekki gert? Ašalįstęšan er lķklega sś aš tęknin er of ung og hefur enn ekki įunniš sér traust. Ķsland er reyndar sérstaklega vel ķ stakk bśiš til žess aš koma žessari tękni ķ notkun innan nśverandi heilbrigšiskerfis. Samtök og fyrirtęki į borš viš t.d. Hjartavernd og Ķslenska erfšagreiningu, sem og ašrir sérfręšingar į Ķslandi, eru meš framśrskarandi kunnįttu į žessu sviši sem er vel žekkt ķ hinu alžjóšlega vķsindaumhverfi. Ķ mķnum huga er žetta ašeins spurning um hvort viš viljum vera mešal žeirra fyrstu til žess aš nżta okkur žessa nżju tękni innan heilbrigšisžjónustunar eša ekki. Ég tel aš viš eigum aš grķpa žetta einstaka tękifęri strax og vera ķ fararbroddi ķ erfšafręšibyltingu innan heilbrigšisžjónustunnar žar sem skynsemi og ešlileg sišferšisleg sjónarmiš eru höfš ķ heišri.


 
Meš žvķ aš taka miš af erfšaefni einstaklinga
er hęgt aš bęta įhęttumat į mörgum sjśkdómum og žannig auka lķfslķkur og lķfsgęši einstaklinga.
 

 

 


 


Rannsókn į genum MND sjśklinga į Ķslandi afsannar ętlašan sjśkdómsvald

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

  

Rannsókn į genum MND-sjśklinga į Ķslandi afsannar ętlašan sjśkdómsvald.

 

Birtist fyrst ķ Morgunblašinu 28. marz 2013.

  

     

Loftur Altice Žorsteinsson.

MND er hreyfitauga-sjśkdómur, sem herjar į allar žjóšir ķ svipušum męli. Engin lękning hefur fundist viš sjśkdómnum, sem fer versnandi er tķminn lķšur og leišir oftast til dauša sjśklinganna. Orsakir MND eru taldar vera gena-breytingar sem valda göllum ķ prótķnum. Um 20 slķk gen hafa veriš greind, en gena-breytingar sem koma viš sögu skipta hundrušum. Til aš finna lękningu viš MND, er ljóslega mikilvęgt aš greina rétt hvaša gena-breytingar valda sjśkdómnum. Sjśklingar og lęknar į Ķslandi hafa komiš aš mikilvęgum rannsóknum į žessu sviši.

MND-sjśkdómurinn getur bęši veriš ęttgengur og tilfallandi. Žótt einungis um 10% sjśklinga séu meš ęttgengt afbrigši sjśkdómsins, er sį hópur įkaflega mikilvęgur vegna žess aš hjį honum hafa greinst langflestar gena-breytingar sem taldar eru vera orsök sjśkdómsins. Allar stökkbreytingar hjį fólki eru aš mešaltali taldar vera um 60 og eru sumar žeirra orsök sjśkdóma en ašrar kunna aš vera gagnlegar fyrir heilsufar fólks og jafnvel ęskilegar fyrir žróun mannkyns. Eina stökkbreytingin sem greinst hefur hérlendis og öruggt mį telja aš valdi ęttgengu afbrigši MND-sjśkdómsins nefnist G93S-SOD1.

Lķfvķsindamenn ķ Umeå, Svķžjóš munu brįšlega birta skżrslur um mikilvęga rannsókn, sem varšar gen sem nefnt er VAPB. Žetta gen hefur veriš tengt MND frį 2004, ķ framhaldi af rannsókn sem gerš var ķ Brasilķu. Sķšari rannsóknir hafa flestar dregiš žessi tengsl ķ efa. Auk Svķa, komu aš rannsóknunum taugalęknar frį Ķslandi (Grétar Gušmundsson) og Portśgal. Einn žessara vķsindamanna (Caroline Ingre) kemur til landsins og heldur fyrirlestur ķ Hįskóla Ķslands 02. aprķl nęstkomandi.

Rannsóknir į gena-breytingum meš žįtttöku MND-sjśklinga.

MND-sjśklingar į Ķslandi hafa veriš duglegir viš aš fį sjśkdóm sinn rannsakašann. Ķ žeirri rannsókn sem Svķarnir stjórnušu tóku žįtt 19 sjśklingar į Ķslandi, 126 ķ Portśgal og 973 ķ Svķžjóš. Auk žess voru notuš blóšsżni til samanburšar frį 644 manneskjum. Hjį 14 Sęnskum sjśklingum og 9 heilbrigšum frį Svķžjóš og Portśgal fundust fimm VAPB-breytingar, žar af voru tvęr įšur óžekktar. Sjśklingarnir 14 meš VAPB-breytingarnar höfšu allir veriš greindir meš afbrigši af MND, sem nefnist ęttgengt ALS. VAPB-breytingar fundust jafnframt hjį heilbrigšum ęttingjum žeirra.

Stökkbreytingin A130G-VAPB fannst einnig hjį tveimur sjśklingum, sem tilheyra ALS-greindri fjölskyldu į Ķslandi, en breytingin tengist ekki sjśkdómnum, žvķ aš hinir sjśklingarnir héšan eru ekki meš VAPB-breytinguna. Hins vegar reyndust allir sjśklingarnir frį Ķslandi vera meš stökkbreytingu ķ SOD1-geni, sem nefnist G93S. Sjśkdómseinkenni allra žessara sjśklinga eru eins, žannig aš dreginn er sś įlyktun aš stökkbreytingin G93S-SOD1 valdi sjśkdómnum. Žess mį geta aš G93S-SOD1 hefur einungis fundist hjį MND-sjśklingum ķ Japan, fyrir utan Ķsland.

Rannsóknin leiddi ķ ljós, aš VAPB-breytingar voru jafn algengar hjį MND-sjśklingunum eins og hjį öšru fólki ķ rannsókninni. Aš auki fannst VAPB-breyting hjį nokkrum heilbrigšum ęttingjum MND-sjśklinga. Žetta atriši, įsamt žvķ aš engin fylgni sjśkdómsins veršur greind meš VAPB-breytingum, veldur žvķ aš mjög ólķklegt er aš VAPB-breytingar valdi MND-sjśkdómnum.

Ein af nišurstöšum rannsóknarinnar sem hér hefur veriš nefnd, er aš mikilvęgt er aš gena-greina fleirri en bara viškomandi sjśkling. Greiningin veršur einnig aš nį til nįkominna ęttingja hans. Röng gena-greining getur haft alvarlegar afleišingar fyrir fleirri en sjśklinginn. Ęttingar hans geta žurft aš fara ķ greiningu sķšar vegna sjśkdómseinkenna, eša fjölskylduįętlana. Almennt er röng sjśkdómsgreining į mešal žess erfišasta sem sjśklingar lenda ķ, hvaša sjśkdóm sem um er aš ręša.

Félag stofnaš um MND-rannsóknir į Ķslandi.

Alžjóšleg mišstöš MND-rannsókna var stofnuš 08. nóvember 2012 og er hugsjónafélag, sem verja mun öllum rekstrarhagnaši til rannsókna. Tilgangur žess er aš stušla aš rannsóknum į hreyfitauga sjśkdómum, ķ samstarfi viš erlendar og innlendar vķsindastofnanir. Verkefnin eru fólgin ķ nįkvęmri sjśkdómsgreiningu MND-sjśklinga į Ķslandi, rannsóknum į orsökum hreyfitauga sjśkdóma og leitar aš lękningu į žeim.

Nś žegar hefur tekist traust samband viš nokkrar erlendar rannsóknar-stofnanir, į sviši hreyfitauga sjśkdóma. Geta mį sérstaklega eftirfarandi prófessora ķ taugalękningum, sem eru virkir ķ rannsóknum: Peter Munch Andersen, viš Hįskólann ķ Umeå, Svķžjóš, John K. Fink, viš Hįskólann ķ Michigan, Bandarķkjunum, Guy A. Rouleau, viš Hįskólann ķ Montreal, Kanada. Žar til fjįrmögnun hefur tekist til innlendra rannsókna, mun félagiš senda lķfsżni til erlendra samstarfsmanna.

Félagiš óskar eftir nįnu samstarfi viš félagasamtök fólks meš hreyfitauga sjśkdóma, heilbrigšisyfirvöld, heilbrigšisstofnanir, rannsóknar-stofnanir į sviši lķffręši og sjįlfstętt starfandi vķsindamenn. Félagiš hefur sótt um fjįrframlag frį rķkisstjórn Ķslands, en veriš hafnaš. Vonir standa til aš nęrsta rķkisstjórn verši vinveittari MND-rannsóknum.


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 Velferš


 


Hreyfitauga sjśkdómar og batahorfur MND-sjśklinga

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

  

Hreyfitauga sjśkdómar og batahorfur MND-sjśklinga.

 

Birtist fyrst ķ 20 įra afmęlisblaši MND-félagsins 20. febrśar 2013.

  

     

Loftur Altice Žorsteinsson.

 

Hreyfitauga sjśkdómar (MND) er samheiti yfir sjśkdóma, sem eiga žaš sameiginlegt aš hreyfitaugar visna eša missa fulla virkni, meš žeirri afleišingu aš viljastżršir vöšvar lķkamans hętta aš starfa ešlilega. Um er aš ręša margvķsleg sjśkdómseinkenni og greindar hafa veriš margar orsakir. Ķ alvarlegustu afbrigšum MND visna vöšvarnir, žegar hreyfitaugarnar bera žeim ekki lengur rafboš frį heilanum. Ķ öšrum afbrigšum verša vöšvarnir stķfir og taugavišbrögš hörš og ósjįlfrįš, žrįtt fyrir aš heilinn haldi sambandi viš vöšvana. Sem dęmi um žessi mismunandi afbrigši MND (motor neuron disease) mį nefna ALS (amyothophic lateral sclerosis) og PLS (primari lateral sclerosis).

 

Sjśklingum sem greinast meš MND veršur fljótt ljóst, aš sjśkdómur žeirra er talinn vera ólęknandi, versna stig af stigi og vera banvęnn. Mešaltölin eru ekki uppörvandi, en žegar fariš er aš skoša mįliš ofan ķ kjölinn, koma ķ ljós stašreyndir sem gefa mešaltölunum langt nef. Fólk upplifir sig ekki sem mešaltöl, heldur sem sérstaka einstaklinga ķ sķnum sérstöku kringumstęšum.  Žeir sem ekki falla fljótt fyrir sjśkdómnum, geta gert sér vonir um aš lifa lengi meš honum, žótt batahorfur séu vissulega ennžį litlar.

 

Hęgt er aš benda į, aš frį žvķ aš fyrstu einkenni koma ķ ljós lifa um 40% sjśklinga lengur en 5 įr, um 20% lifa lengur en 10 įr og um 10% sjśklinga lengur en 20 įr. Jafnvel »kraftaverk« geta skeš, žvķ aš hjį um 5% sjśklinga viršist sjśkdómurinn fjara śt, aš žvķ marki aš hann nęr ekki śtbreišslu til allra viljastżršra vöšva. Žegar bętist viš, aš rannsóknir į MND eru vķša um lönd stundašar af kappi, er ekki gefiš aš MND-sjśklingar gefi sig į vald örvęntingar.

 

Lķfslengd sjśklinga meš MND er žannig įkaflega mismunandi og sama į viš um einkenni sjśkdómsins, aš žau eru margbreytileg. Žessi breytileiki stafar af žvķ aš MND er ekki einsleitur sjśkdómur, heldur hefur mörg birtingarform. Hann er talinn stafa af stökkbreytingu ķ genum sem stjórna gerš og starfsemi mismunandi prótķna ķ hreyfitauga-kerfi sjśklinga. Stökkbreyttu prótķnin er aš finna ķ heilaberki og męnu. Veikindin birtast sķšan ķ hrörnun hreyfitauganna: a) efri hreyfitauga, sem liggja frį heilaberki nišur męnuna og b) nešri hreyfitauga, sem liggja frį męnunni śt ķ viljastżrša vöšva ķ fótum, bol, höndum og höfši.

 

Žótt hreyfitauga-frumur hjį MND-sjśklingum verši hrörnun aš brįš, er ekki ljóst hvaš veldur žessari hrörnun. Einn möguleiki er aš orsökin sé orkuskortur hjį hreyfitaugunum og aš žęr verši žess vegna ófęrar aš flytja boš aš og frį viljastżršu vöšvunum. Vitaš er aš svo nefndar stjörnufrumur (astrocytes), sem finnast ķ taugakerfinu, gegna mešal annars žvķ verkefni aš bera hreyfitaugunum orku. Stjörnufrumurnar tengjast bęši blóšęšum og hreyfitaugum og breyta orku-rķkum glśkosa (glucose) śr blóšinu ķ mjólkursżru (lactate) sem žęr fęra hreyfitaugunum. Rannsóknir hafa sżnt aš stökkbreytt SOD1 ķ stjörnufrumunum kemur viš sögu ķ MND og hugsanlega veldur žaš röskun į orkuflutningi til hreyfitauganna.

Hreyfitaugar efri og nešri 

Skżringarmynd af hreyfitauga-kerfinu. Efri hreyfitaugar (Upper motor neurons) liggja frį hreyfisvęšinu (primary motor cortex) į heilaberki manna, nišur męnuna, žar sem nešri hreyfitaugar (Lower motor neurons) taka viš bošum sem berast śt til vöšvanna. Hreyfitaugarnar lifa ķ sambżli viš nokkrar ašrar frumur og žar į mešal stjörnufrumur (astrocytes).

 

 

Glutamatergic synapse 

Skżringarmynd af orkubśskap hreyfitauga. Stjörnufrumur (astrocytes) sękja orkurķkan glśkósa (glucose) til blóšęšar (capillary) og eftir umbreytingu mišlar mjólkursżru (lactate) til hreyfitaugafrumu (motor neuron). Truflun į žessu ferli er hugsanlega orsök MND, en sannanir į tilgįtunni skortir ennžį.

 

Skilgreining hreyfitauga sjśkdóma.

 

Um 150 įr eru sķšan hreyfitauga sjśkdómar voru skilgreindir og žeim gefin nöfn. Įriš 1830 lżsti Charles Bell veikindum tveggja MND-sjśklinga. Į įrunum 1848 og 1850 skilgreindi Francois Aran afbrigši af MND, sem nefnist »progressive spinal muscular atrophy«. Nįkvęma lżsingu gaf sķšan Jean-Martin Charcot ķ nokkrum ritgeršum į įrunum 1869 til 1881. Į Ķslandi kemur MND hugsanlega fyrst fyrir ķ ritušu mįli 1859, žegar Siguršur Sķvertsen Brynjólfsson nefnir ”hįlfvisnu” ķ Sušurnesja-annįl sķnum.

 

MND-sjśklinga er aš finna ķ öllum rķkjum Jaršar og öllum kynžįttum. Tķšni sjśkdómsins er aš aukast og į Ķslandi greinast nśna um 6 į įri og heildarfjöldi sjśklinga er um 30. Af óžekktum įstęšum, greinist sjśkdómurinn hjį fleirri körlum en konum, žrįtt fyrir aš konur verša nokkru eldri en karlar. Strangt tiltekiš eru orsakir MND óžekktar, en rannsóknir hafa leitt ķ ljós aš stęrsti greinanlegi įhęttu-žįtturinn er ęttartengsl viš ašra MND-sjśklinga. Rannsóknir į fjölskyldum sem greinst hafa meš sjśkdóminn, benda til aš hann erfist samkvęmt sömu velžekktu reglum og gilda um ašra ęttgenga sjśkdóma.

 

Um 10% MND-sjśklinga eru meš ęttgengt (familial) afbrigši sjśkdómsins og oftast er um aš ręša erfša-mynstur sem nefnist “jafnkynja rķkjandi” (autosomal dominant), sem merkir aš stökkbreyting erfist jafnt til beggja kynja og aš einungis eitt stökkbreytt gen žarf til aš valda sjśkdómnum. MND-sjśklingur meš ęttgengt afbrigši sjśkdómsins er žvķ venjulega meš eitt stökkbreytt gen og annaš óbreytt. Barn foreldris meš MND hefur žį 50% lķkur aš erfa hiš gallaša gen og jafn miklar aš erfa žaš ekki. Žessi mynd kann aš breytast į nęrstu įrum, vegna žess aš stöšugt finnast įšur óžekktar stökkbreytingar ķ genum, sem tengjast MND og vķkjandi erfša-mynstur (recessive inheritance) kann aš vera algengara en birtist ķ dag. Ef erfša-mynstriš er “jafnkynja vķkjandi” (autosomal recessive) erfist stökkbreytingin jafnt til beggja kynja, en til aš sjśkdómurinn birtist veršur sjśklingurinn aš hafa erft stökkbreytt gen frį bįšum foreldrum.

 

Flestar stökkbreytingar hjį MND-sjśklingum, hafa fundist ķ geni sem nefnist SOD1 og žaš forritar prótķniš Kopar-Zink Superoxide Dismutase. Žetta prótķn er efnahvati (enzyme) og žaš er aš finna inni ķ öllum frumum lķkamans, žar sem žaš virkar sem kraftmikiš andoxunarefni. Viš rannsóknir į MND-sjśklingum hafa fundist nęr 200 stökkbreytingar ķ SOD1 og įstęša viršist aš ętla, aš hverri tegund stökkbreytingar fylgi sérstakt afbrigši sjśkdómsins. Fundist hafa stökkbreytingar ķ um 20 öšrum prótķnum, sem einnig er įlitiš aš orsaki MND. Į Ķslandi hefur einungis greinst ein stökkbreyting ķ SOD1, sem tengja mį MND og nefnist G93S. Önnur stökkbreyting nefnist D130E (óbirt heimild) og finnst ķ geni sem nefnist VAPB. Įstęša žessarar fįbreytni er lķklega takmarkašar rannsóknir, fremur en aš erfšaefni landsmanna takmarki stökkbreytingar.

 

Sjśkdómsgreining hjį MND-sjśklingi.

 

Žótt einkenni MND fari ekki framhjį neinum, er fullkomlega vķsindaleg greining sjśkdómsins samt torveld ef ekki ómöguleg. Ennžį er nįlgunin sś aš reynt er aš śtiloka ašra sjśkdóma, sem aš einhverju leyti birtast ķ sömu sjśkdómseinkennum. Žaš heilręši er hęgt aš gefa sjśklingum aš fį greiningu hjį fleirri en einum lękni og kynna sér sjįlfur žį sjśkdóma sem hafa svipuš einkenni og MND. Rangar sjśkdómsgreiningar og seinvirkar er eitt heldsta įhyggjuefni MND-sjśklinga. Vegna žess aš orsakir MND eru lķtt žekktar og sjśkdómurinn er aš flestu leyti flókinn, er mikilvęgt fyrir sjśklinga og ašstandendur žeirra aš leita sér žeirrar ašstošar sem lęknar og hjśkrunarfólk er fęrt um aš veita.

 

Fyrsti hluti MND-greiningar hjį einstaklingi er fólginn ķ, aš finna śt hvort sjśkdómurinn er ęttgengur (familial) eša tilfallandi (sporadic). Ķ ljósi nżrra upplżsinga er žessi flokkun lķklega śrelt, en hśn getur samt ennžį gefiš įkvešnar upplżsingar. Stundum liggur svariš ljóst fyrir, ef vitaš er aš sjśkdómurinn hefur komiš upp hjį nįnum ęttingum. Ef engin ęttarsaga liggur fyrir er talaš um tilfallandi (sporadic) orsakir. Hins vegar er raunveruleikinn oftast flóknari og erfišara veršur meš hverju įrinu aš gera skżran mun į milli ęttgengs MND og tilfallandi.

 

Žaš sem ķ upphafi er flokkaš sem tilfallandi MND er oft duliš tilvik af ęttgengu MND. Nokkuš öruggt mį telja, aš ęttgengt MND stafar af stökkbreytingu ķ genum sjśklingsins, sem hann hefur erft frį foreldrum sķnum. Venjulega er um aš ręša rķkjandi (dominant) erfšir, sem merkir aš einstaklingur meš stökkbreytt gen frį öšru foreldri sķnu, fęr nokkuš örugglega sjśkdómseinkenni, fyrr eša sķšar. Hins vegar getur veriš um aš ręša vķkjandi (recessive) erfšir og žį hefur sjśklingurinn fengiš stökkbreytt gen frį bįšum foreldrum. Ef ekki liggja fyrir traustar heimildir um forfešur sjśklingsins og sjśkrasögu ęttmenna hans, getur lęknum hęglega skjįtlast varšandi žessa flokkun.

 

Ķ öšru lagi getur veriš aš sjśklingur sé raunverulega meš tilfallandi MND, sem varš žį til viš getnaš žess einstaklings eša sķšar į ęfi hans. Veriš getur aš afkomendur sjśklingsins erfi hiš stökkbreytta gen og sjśkdómurinn er žį örugglega oršinn ęttgengur. Ęttgengt MND į sér uppruna ķ einhverjum einstaklingi, žótt langt kunni aš vera sķšan sį einstaklingur lifši og hann sé fullkomlega óžekktur. Einnig ber aš hafa ķ huga aš engin mismunur hefur greinst hvaš varšar sjśkdómseinkenni, į milli ęttgengs MND og tilfallandi. Stöšugt greinast nżgjar geršir stökk-breytinga ķ genum MND-sjśklinga og oft eru žaš sömu stökk-breytingarnar sem finnast ķ bįšum flokkum. Žrįtt fyrir nokkuš augljós tengsl MND viš stökkbreytt erfšaefni, er samt įstęša til aš ętla aš ašrir žęttir hafi einnig įhrif į sjśkdóminn, svo sem umhverfi og lķfsmįti fólks.

 

Lękning MND-sjśkdómsins og umönnun sjśklinga.

 

Ennžį hefur ekki fundist lękning viš MND og batahorfur eru žvķ engar, ef kraftaverkum er sleppt śr myndinni. Umönnun sjśklinga er žvķ bundin viš aš gera sambśšina viš sjśkdóminn eins žolanlega eins og hęgt er. Mörg sjśkdómseinkenni er hęgt aš milda og višhalda aš einhverju leyti hreyfigetu fólks meš hjįlpartękjum. MND-teymi Landspķtalans annast mikilvęgan žįtt ķ umönnun sjśklinga og ašstandenda žeirra. Sérhęft fólk er ķ teyminu, sem sjśklingar geta leitaš til meš litlum fyrirvara. Hrörnun MND-sjśklinga er oftast mjög hröš og žvķ er mikilvęgt aš grķpa tķmanlega til śrręša sem gert geta gagn, hvort sem um er aš ręša lyfjagjöf eša śtvegun hjįlpartękja. Eitt mikilvęgasta verkefni MND-teymisins er, aš tryggja aš tiltęk śrręši gagnist sjśklingunum sem fyrst og berist žeim ekki um seinan.

 

Ekki er mikil von til aš lękning viš MND finnist fyrir tilviljun. Ętla veršur aš fyrst verši aš finna upptök sjśkdómsins, sķšan komi leit aš orsaka-sambandi sem leišir til visnunar hreyfitauganna og loks rannsóknir til aš finna leišir til aš rjśfa orsakasambandiš, eša stöšva sjśkdóminn viš upptök. Ekki er ennžį hęgt aš segja meš vissu hvar upptök MND er aš finna, žótt tilgįtur skorti ekki. Hugsanlega geta upptökin veriš margskonar, sem valda įkvešnu orsakasambandi sem leišir til MND sjśkdómseinkenna. Veriš er aš reyna lękningu meš stofnfrumum, lyfjum sem menn vonast til aš lękni sjśkdóminn og lyfjum sem hugsanlega gętu bęlt starfsemi įkvešinna gallarra prótķna, sem gefa frį sér eiturefni. Tilgįturnar eru margar, sem aškallandi er aš fįi rannsókn, en fjįrmunir til MND-rannsókna liggja ekki į lausu.

 

Stofnaš hefur veriš félag til aš vinna aš MND-rannsóknum og nefnist žaš »Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum«. Vonir eru bundnar viš aš stjórnvöld sjįi įstęšu til aš veita félaginu fjįrmagn, svo aš žaš geti sinnt verkefnum sķnum. Fjįrmögnunar veršur einnig leitaš til einstaklinga og fyrirtękja. Samiš hefur veriš um samstarf viš vķsindamenn ķ Svķžjóš og   leitaš veršur vķšar eftir samstarfsmönnum. Fyrstu verkefnin verša mešal annars fólgin ķ aš leita stökkbreytinga hjį MND-sjśklingum į Ķslandi  og aš žróa ašferšir viš sjśkdómsgreiningu. Ekki er aš vęnta lękningar į neinum meinsemdum nema orsakir og framgangur sjśkdómsins sé aš fullu ljós. Nśna er einstakt tękifęri fyrir Ķsland, aš koma sterkt inn į vettvang rannsókna į hreyfitauga sjśkdómum. Vķsindamenn og ašstaša er fyrir hendi ķ landinu og samstarf tryggt viš erlenda vķsindamenn. »Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum« ętlar aš nį įrangri meš rannsóknum sķnum.


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Stökkbreytta geniš SOD1-G93S (fundiš hjį MND-sjśklingum į Ķslandi og Japan)

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

 
  

Skżrslur um SOD1-G93S

2012

SOD1-N196 mutation in a family with amyotrophic lateral sclerosis

2012

The genetics and neuropathology of amyotrophic lateral sclerosis

2011

High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients

2011

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

2011

Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS

2010

Phenotypic Heterogeneity in a SOD1 G93D Italian ALS Family: An Example of Human Model to Study a Complex Disease

2010

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

2010

SOD1 Mutations in Amyotrophic Lateral Sclerosis

2010

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial Amyotrophic Lateral Sclerosis: genotype-phenotype correlations

2010

Identification of compounds protective against G93A-SOD1 toxicity for the treatment of amyotrophic lateral sclerosis

2009

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis

2009

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis

2009

Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease

2008

Familial amyotrophic lateral sclerosis with Gly93Ser mutation in Cu/Zn superoxide dismutase: A clinical and neuropathological study

2008

Protein Aggregation and Protein Instability Govern Familial Amyotrophic Lateral Sclerosis Patient Survival

2007

Mutant SOD1-induced neuronal toxicity is mediated by increased mitochondrial superoxide levels

2006

Calorimetric Analysis of Thermodynamic Stability and mutation Aggregation for Apo and Holo ALS-associated Gly-93 Mutants of Superoxide Dismutase

2006

The G93C Mutation in Superoxide Dismutase 1. Clinicopathologic Phenotype and Prognosis

2005

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

2002

Anticipation in familial amyotrophic lateral sclerosis with SOD1-G93S mutation

2000

Recessively inherited amyotrophic lateral sclerosis: a German family with the D90A CuZn-SOD mutation

1997

Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene

1997

Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser)

1997

Phenotypic heterogeneity in motor neuron disease patients with CuZnsuperoxide dismutase mutations in Scandinavia

1996

Cu/Zn superoxide gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features 

1996

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

1994

Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity
 

SOD1 Mutations Regions

  

Vesicle traffic defects in the wobbler mouse- and human ALS patients skin fibroblasts

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

  

 

Vesicle traffic defects in the wobbler mouse-
and human ALS patients skin fibroblasts.
 

Pįll Ragnar Karlsson.

Žetta er śrdrįttur śr fyrirlestri, sem höfundur hélt į fundi hjį MND-félaginu į įrinu 2010. Byggši fyrirlesturinn į M.Sc. skżrslu höfundar, sem hann lauk viš ķ jśnķ 2009. Höfundur mun ljśka Ph.D. nįmi frį Aarhus hįskóla ķ byrjun įrs 2013.


 

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Tilgangur rannsóknarinnar var aš koma į fót skimunarprófi fyrir galla ķ frumuflutningum ķ frumurękt frį mśsa-hśšfķbróblöstum og mennskum ALS sjśklingum. Hugsunin į bak viš rannsóknina byggist į blöšrum ķ frumum sem flytjast milli svęša. Hugsanlegt er aš galli ķ flutningunum sé śrslitažįttur fyrir hreyfitaugasjśkdóma lķkt og MND. Rannsóknarhópurinn sem ég var hluti af hafši įšur séš žennan galla ķ mśsafósturvķsum. Hér könnušum viš hvort viš myndum sjį sama galla ķ hśšfķbróblöstum wobbler mśsa (dżramódel fyrir MND sjśkdóminn, ž.e. mśs sem er meš flestöll helstu einkenni hinn mennska MND sjśkdóms), og aš hefja rannsóknir frį hśšfrumum MND sjśklinga. Skimunarprófinu sem komiš var į fót gengur śt į eiturefna-upptöku og śtbreišslu mannósa-6-fosfat sameindarinnar.

ergolgi

Nż prótein eru bśin til ķ frymisnetinu (sjį mynd, rough/smooth endoplasmic reticulum). Próteinin eru svo flutt frį slétta frymisnetinu yfir ķ cis-enda golgi kerfisins ķ flutningsbólum. Próteinin fara svo ķ gegn um golgi kerfiš og žvķ lengra sem žau fara inn ķ golgi kerfiš, žroskast próteinin og fara svo loks śr golgi kerfinu į trans-hlišinni sem fullžroska prótein. Próteinin eru svo annaš hvort nżtt innan frumunnar eša žau flutt śt śr frumunni til aš sinna verkum sķnum. Žaš er galli ķ žessum flutningum sem fundist hefur ķ frumum wobblermśsa-fósturvķsa.

Hęgt er aš kanna hvort flutningsleiš próteina į milli žessara tveggja mikilvęgu frumulķffęra sé ķ lagi meš žvķ aš lįta frumurnar taka upp eitur frį kólerubakterķunni. Žegar frumurnar taka eitriš upp feršast žaš vanalega ķ gegn um golgi kerfiš lķkt og prótein og į aš fara śt trans megin.

Meš žvķ aš merkja golgi kerfiš meš einum lit og kólerueitriš meš öšrum er hęgt aš sjį bęši stašsetningu golgi kerfisins og eitursins meš smįsjį sem kölluš er confocal smįsjį.

Tilraunirnar voru geršar ķ frumutękt. Žaš er aš segja hśšsżni voru tekin śr heilbrigšum mśsum og wobblermśsum įsamt fjórum MND sjśklingum og tveimur heilbrigšum ęttingjum eins žeirra. Frumur voru sķšan ręktašar śt frį žessum sżnum til žess aš gera tilraunir į. Į myndinni fyrir nešan mį sjį dęmi um hvernig litun ķ eiturefnaprófi mannafruma lķtur śt.

Į myndinni eru frumur sem hafa fengiš aš taka upp kólerueitriš (gręnt) ķ 20 mķnśtur og į aš vera ķ og viš golgi kerfiš (rautt). Efri myndalķnan sżnir heilbrigšar frumur en sś nešri frumur frį MND sjśklingi.

Žaš er erfitt aš dęma ašeins śt frį myndunum hvort žaš sé meira eitur viš golgi kerfiš, žar sem žaš į aš vera ef allt sé ešlilegt, hjį MND sjśklingnum eša hjį heilbrigša ęttingjanum. Śt frį vķsindalegu sjónarmiši er žaš heldur ekki nęgjanlegt aš skoša einungis myndirnar. Žaš žarf aš męla į einhvern hįtt hversu hįtt hlutfall af žvķ eitri sem er komiš inn ķ frumuna, er ķ golgi kerfinu. Žaš er gert ķ confocal smįsjįnni. Hśn getur tališ alla žį gręnu punkta sem eru inn ķ frumunni – einnig žį sem eru ķ raušu punktunum. Tölvan reiknar svo śt hlutfall gręnna punkta ķ raušum punktum og kemur śt meš tölu frį 0 og upp ķ 1, žar sem 0 merkir aš ekkert eitur er ķ golgi kerfinu (0%) og 1 merkir aš allt eitriš sem er inni ķ frumunni er stašsett ķ golgi kerfinu (100%).

Nišurstöšur žessara męlinga mį sjį į myndunum į nęstu sķšu. Vinstri hlišin sżnir nišurstöšur męlinganna fyrir mżsnar og hęgri myndin nišurstöšur fyrir mennsku frumurnar. Blįu sślurnar eru heilbrigšar mżs og menn į mešan ašrir litir (hęgra megin viš blįu sślurnar) eru MND sjśkar (wobbler) mżs og MND sjśklingar. Tveir heilbrigšir einstaklingar voru męldir hjį mönnunum og eru um 20 męlingar į bak viš hverja sślu. Į X įsnum (lįrétt) er tķmi ķ mķnśtum en į Y įsnum (lóšrétt) er magn eiturs męlt ķ golgi kerfinu (0.1 = 10% af eitrinu er ķ golgi kerfinu). Nišurstöšurnar hjį mśsunum sżna aš žaš er stęršfręšilega marktękur munur į eitri ķ golgi kerfinu milli mśsategundanna eftir 10 mķnśtna upptöku og sķšar (męlt var eftir 5, 10, 20 og 40 mķnśtur), tįknaš meš stjörnu. Žegar MND sjśklingarnir og heilbrigšu ęttingjarnir eru bornir saman sést stęršfręšilega marktękur munur eftir 5, 20 og 40 mķnśtur en einhverra hluta vegna ekki eftir 10 mķnśtur.

Önnur próf voru einnig gerš, til dęmis var kannaš hvar sameindin mannose-6-fosfat er til stašar ķ frumunum. Ef allt er ešlilegt į sameindin aš vera ķ og viš golgi-kerfiš. Sé golgi kerfiš hins vegar bilaš eša ekki til stašar er sameindin į vķš og dreif ķ frumunni. Rannsóknir okkar sżna aš sameindin sé meira dreifš hjį wobbler mśsafrumunum en hjį heilbrigšu mśsafrumunum. Einnig geršum viš frumuįtspróf žar sem viš śtilokušum aš sjśku frumurnar ęttu erfišara meš aš taka upp eitur og efni frį umhverfi sķnu en heilbrigšu frumurnar. Frumurnar eiga jafn aušvelt meš aš taka eitriš upp.

Helstu nišurstöšur okkar eru aš flutningsgallar eru séšir ķ hśšfrumum mśsafósturvķsa, fķbróblöstum śr hśš wobbler mśsa og (amk hér) ALS sjśklinga meš SOD1 stökkbreytinguna. Meirihluti MPR gęti veriš į röngum stöšum ķ frumunum, hugsanlega vegna MPR uppsöfnunar ķ litlum flutningsbólum fyrir nešan svokölluš endosome (Pérez-Victoria, 2008) eša vegna umferšarstķflu viš trans golgi kerfiš; žau sameinast hvort öšru, sem leišir til stórra endosomal sameinda (Schmitt-John, P. Karlsson).

Aš lokum tókst aš setja į fót hagnżtt skimunarpróf til aš auškenna galla ķ frumuflutningum. Viš athugušum žó ašeins fjóra MND sjśklinga og tvo heilbrigša ęttingja eins žeirra. Frekari prófanir žarf žvķ aš gera į frumum frį MND sjśklingum. Žį gętum viš hafa kynnt fyrstu skrefin aš mögulegum mešferšum žar sem hęgt er aš nota skimunarprófiš fyrir lyfjafręšilegri skimun aš sameindum meš gagnleg įhrif į frumuflutninga.


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Fréttatilkynning um stofnun Alžjóšlegrar mišstöšvar MND-rannsókna

  
 

  Alžjóšleg mišstöš rannsókna į hreyfitauga sjśkdómum

International Center for Research on Motor Neuron Diseases

ICRon-MND

  

 

Fréttatilkynning 15. desember 2012.
 

Alžjóšleg mišstöš MND-rannsókna var stofnuš 08. nóvember 2012 og er hugsjónafélag, sem verja mun öllum rekstrarhagnaši til rannsókna. Tilgangur žess er aš stušla aš rannsóknum į hreyfitauga sjśkdómum, ķ samstarfi viš erlendar og innlendar vķsindastofnanir. Verkefnin eru fólgin ķ nįkvęmri sjśkdómsgreiningu MND-sjśklinga į Ķslandi, rannsóknum į orsökum hreyfitauga sjśkdóma og leitar aš lękningu į žeim.

Félagiš mun hafi nįiš samstarf viš félagasamtök fólks meš hreyfitauga sjśkdóma, heilbrigšisyfirvöld, heilbrigšisstofnanir, rannsóknar-stofnanir į sviši lķffręši og sjįlfstętt starfandi vķsindamenn. Aš sjįlfsögšu mun félagiš einnig hafa nįiš samrįš viš Persónunefnd og Vķsindasišanefnd.

Hreyfitauga sjśkdómar žekkja engin landamęri og litlu skiptir hvar ķ heiminum žekkingar į žeim er aflaš. Fjįrmagns til verkefna į vegum félagsins veršur leitaš bęši innanlands og utan.

Nś žegar hefur tekist traust samband viš nokkrar erlendar rannsóknar-stofnanir, į sviši hreyfitauga sjśkdóma. Geta mį sérstaklega eftirfarandi vķsindamanna:

·       Peter Munch Andersen, prófessor ķ taugalękningum viš Hįskólann ķ Umeå, Svķžjóš.

·       Chantal Tallaksen, prófessor ķ taugalękningum viš Hįskólann ķ Osló, Norvegi.

·       John K. Fink, prófessor ķ taugalękningum viš Hįskólann ķ Michigan, Bandarķkjunum.

Félagiš auglżsir eftir vķsindamönnum til starfa viš rannsóknir į hreyfitauga sjśkdómum og munu žeir hafa starfsašstöšu bęši hér heima og erlendis. Félagiš hefur einnig möguleika, aš styrkja nįmsmenn ķ doktorsnįmi, enda vinni žeir aš verkefnum į sviši hreyfitauga sjśkdóma.

Ķ stjórn félagsins eru:

Loftur Altice Žorsteinsson, verkfręšingur. Sķmi:5887766.
Grétar Gušmundsson, taugalęknir MND-teymis Landsspķtala.
Pétur Henry Petersen, taugalķffręšingur og lektor viš Hįskóla Ķslands.
Pįll Ragnar Karlsson, sameindalķffręšingur, Hįskólasjśkrahśsiš ķ Aarhus, Danmörku.
 

Chicago 2012 I 
Ķslendingar sem sóttu MND-rįšstefnu ķ Chicago ķ desember 2012

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