Av
Hos ungefär hälften av alla epilepsipatienter kan sjukdomen kopplas till en skallskada, en hjärntumör eller en neurologisk sjukdom. I de flesta andra fall är det troligen genetiska förändringar som ligger bakom sjukdomen. Hittills har dock ingen lyckats identifiera de gener som är inblandade.
Nu har en grupp brittiska forskare visat att en mutation i genen ATP1A3 ger upphov till en allvarlig form av epilepsi hos möss. Studien leddes av Steve Clapcote vid Universitetet i Leeds.
Proteinet som ATP1A3 kodar för är ett enzym som är involverat i regleringen av natrium-kaliumhalten i hjärnan genom att pumpa kemikalierna in och ut ur cellen. Koncentrationen av natrium och kalium i nervcellerna avgör hur lätt nervsignaler skickas iväg och en obalans i nivåerna kan trigga igång onormalt mycket nervimpulser vilket får kroppens muskler att krampa.
Forskarna har nu börjat screena genetiskt material från epilepsipatienter för att se om samma genetiska defekt ökar risken att drabbas av sjukdomen hos människor. Om detta visar sig vara fallet kan de nya rönen komma att öppna dörren för nya behandlingar. Kanske skulle patienterna kunna behandlas med en syntetisk version av natrium- kaliumpumpen för att återsälla regleringen av kemikalierna i hjärnan.
Nu har en grupp brittiska forskare visat att en mutation i genen ATP1A3 ger upphov till en allvarlig form av epilepsi hos möss. Studien leddes av Steve Clapcote vid Universitetet i Leeds.
Proteinet som ATP1A3 kodar för är ett enzym som är involverat i regleringen av natrium-kaliumhalten i hjärnan genom att pumpa kemikalierna in och ut ur cellen. Koncentrationen av natrium och kalium i nervcellerna avgör hur lätt nervsignaler skickas iväg och en obalans i nivåerna kan trigga igång onormalt mycket nervimpulser vilket får kroppens muskler att krampa.
Forskarna har nu börjat screena genetiskt material från epilepsipatienter för att se om samma genetiska defekt ökar risken att drabbas av sjukdomen hos människor. Om detta visar sig vara fallet kan de nya rönen komma att öppna dörren för nya behandlingar. Kanske skulle patienterna kunna behandlas med en syntetisk version av natrium- kaliumpumpen för att återsälla regleringen av kemikalierna i hjärnan.
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