BRAIN and NERVE－神経研究の進歩69巻7号

2017年07月発行

増大特集 あしたのアルツハイマー病治療

ゲノム研究から探索するアルツハイマー病の病態と治療

著者： 池内健¹

所属機関： ¹新潟大学脳研究所生命科学リソース研究センター

ページ範囲：P.789 - P.798

文献概要

アルツハイマー病（AD）のゲノム研究は，AD病態の解明に大きく貢献してきた。優性遺伝性ADの原因遺伝子APP，PSEN1，PSEN2の変異は，いずれもアミロイドβを介した病態が生じる。孤発性ADにおける最大の遺伝的リスクAPOEに加え，AD発症を促進するレアバリアントが同定されている。一方で，AD発症に防御的に作用する遺伝的要因も知られている。遺伝的なリスク因子と防御因子の両面からAD病態に迫り，AD治療の新たな可能性を考えてみたい。

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