La ricerca è opera di studiosi del deCODE Genetics di Reykjavik

La mutazione di un gene può contribuire a prevenire l’Alzheimer

di oggisalute | 17 luglio 2012 | pubblicato in Ricerca

Scoperta una mutazione genetica che può aiutare naturalmente a prevenire l’Alzheimer. La mutazione, la prima mai trovata che protegge dalla malattia, risiede in un gene che produce le App (amyloid-I precursor protein) che hanno un ruolo sconosciuto nel cervello e sono da tempo sospettate di essere responsabili della patologia.

La ricerca è opera di studiosi del deCODE Genetics di Reykjavik: il team ha individuato la mutazione comparando il genoma di 1795 islandesi e studiando le varianti di circa 400 mila scandinavi. A quanto si legge su ”Nature” circa lo 0,5 per cento degli islandesi sono portatori della mutazione, e dallo 0,2 allo 0,5 per cento di finlandesi, svedesi e norvegesi.

La mutazione comporta una probabilità di circa 5 volte maggiore di non avere diagnosi di Alzheimer fino agli 85 anni, di vivere più a lungo, e una probabilità 7 volte maggiore di raggiungere gli 85 anni senza avere importanti disturbi cognitivi come la perdita della memoria.

Gli scienziati hanno scoperto che la mutazione induce un’alterazione di un singolo aminoacido delle App. Questo aminoacido influenza l’azione dell’enzima I-secretase 1 (Bace1), bloccando il quale, dunque, si potrebbe avere un effetto preventivo rispetto allo sviluppo della patologia.



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