BRAIN and NERVE－神経研究の進歩66巻12号

2014年12月発行

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総説

脊髄性筋萎縮症の最近のスプライシング病態，治療研究

著者： 佐橋健太郎¹ 祖父江元¹

所属機関： ¹名古屋大学大学院医学系研究科神経内科学

ページ範囲：P.1471 - P.1480

脊髄性筋萎縮症はSMN1遺伝子欠失により発症し，α運動ニューロン変性を伴い進行性に筋力低下をきたす，乳児死亡で最多の遺伝子疾患である。分子病態としてRNAスプライシング障害が主に提唱されている。アンチセンスオリゴヌクレオチドを用いたSMN2スプライシング是正治療を含むSMN蛋白発現回復が有望な治療とされ，一方，近年末梢組織における病態が明らかになり，治療標的臓器が見直されてきている。

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