Молекулярные механизмы нейродегенерации при спинальной мышечной атрофии

В последнее десятилетие были разработаны патогенетические методы терапии спинальной мышечной атрофии 5q, использующие разные стратегии, в том числе увеличение экспрессии гена SMN2, коррекцию сплайсинга SMN2 или реэкспрессию гена SMN1. Несмотря на понимание генетических причин заболевания и имеющиеся методы терапии, до сих пор не до конца известно, какие молекулярные механизмы при дефиците белка SMN приводят к дегенерации моторных нейронов. Понимание молекулярных путей, вовлеченных в потерю двигательных нейронов, может помочь в разработке новых терапевтических стратегий. В статье приводятся генетические и биохимические данные, раскрывающие молекулярные механизмы нейродегенерации при спинальной мышечной атрофии 5q.

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