杜氏肌营养不良症(DMD)及其动物模型研究进展

The study progress of Duchenne muscular dystrophy(DMD)and DMD animal models

杜氏肌营养不良症(Duchenne muscular dystrophy,DMD)属于X连锁隐性遗传病。DMD基因是人类最大基因,突变机制复杂。随着分子生物学的研究进展,对DMD的基因和其编码的抗肌萎缩蛋白(dystrophin)及抗肌萎缩蛋白相关蛋白(utrophin)的认识不断深入。本文就DMD的病理学特点,Dys基因结构、表达、功能,DMD突变及其相关检测技术,DMD实验动物模型及相关治疗的研究进展进行综述。

Duchenne muscular dystrophy （DMD）is X-linked recessive genetic disease caused by the complex mutations of the gigantic dystrophin gene. As the research of these mutations goes on, more and more propertities of dystrophin and utrophin, the genes responsible for DMD, have been uncovered. Here, we reviewed the current studies of the pathological feature, structure, expression and possible mutations of the DMD gene, and the new approaches in the detection of mutations, and the available animal model.