翻訳開始因子eIF2Bの立体構造—CACH/VWM型白質脳症の発症機構解明への手がかりとして

Three-dimensional Structure of eIF2B: A Clue to Understanding the Pathogenesis of CACH/VWM Disease

CACH/VWM（childhood ataxia with central nervous system hypomyelination/vanishing white matter）型白質脳症は，翻訳開始因子eIF2Bの遺伝子変異を原因とする疾患であるが，その発症のメカニズムは明らかではない。発症機構の解明へ向けて，eIF2Bの立体構造情報から得られる知見について解説する。

Abstract

CACH/VWM (childhood ataxia with central nervous system hypomyelination/vanishing white matter) disease is caused by mutations in the genes encoding the subunits of eukaryotic initiation factor 2B (eIF2B), but its etiology is poorly understood. Here, we attempt to provide an explanation for the pathogenic mechanism of this disease, based on the crystal structure of eIF2B.