Roles of an RNA-binding protein MBNL1 in polyglutamine diseases

在CAG重复扩增疾病（包括亨廷顿病）中，聚谷氨酰胺束扩增的突变蛋白被认为对细胞有毒性作用。扩增的CAG重复RNA也可能在这些疾病中具有毒性。MBNL1是一种RNA结合蛋白，可与扩增的CAG重复RNA相互作用，参与CAG/CTG重复扩增引起的疾病的RNA代谢。本研究确定了MBNL1对与重复扩增疾病相关的突变RNA代谢的影响。

In CAG repeat expansion diseases including Huntington's disease, mutant proteins with an expanded polyglutamine tract are thought to have toxic effects in the cells. It is also possible that expanded CAG repeat RNA has toxicity in these diseases. MBNL1 is an RNA-binding protein that interacts with expanded CAG repeat RNA and can be involved in the RNA metabolisms of diseases caused by CAG/CTG repeat expansion. This study identified the effects of MBNL1 on the metabolisms of mutant RNA associated with repeat expansion diseases.