抗肌萎缩蛋白亚型Dp140的研究进展

Progress of Dystrophin Isoform Dp140(review)

Duchenne型肌营养不良是由抗肌萎缩蛋白基因缺陷所导致肌营养不良,在中枢神经系统中至少存在6种抗肌萎缩蛋白亚型。Dp140主要在脑中表达,与认知功能损害密切相关。本文概述Dp140的发现、结构、抗肌萎缩蛋白基因定位、检测方法及功能等。

Duchenne muscular dystrophy is the most prevalent muscular dystrophy caused by dystrophin gene mutations. In the central nervous systerm, there are at least six dystrophin isoforms, in which Dp140 is closely associated with cognitive impairment. This paper reviewed the discovery, structure, gene location, detection methods and function of Dp140.