Abstract:

Duchenne muscular dystrophy (DMD) is the common hereditary muscular disease caused by the deficiency of cytoskeletal protein dystrophin on the sarcolemma. It is characterized by progessive muscle weakness and atrophy and dying of heart or respiratory failure. Currently the gene therapy strategies of DMD can be catagorized into two groups: restoring dystrophin expression and compensating for the lack of dystrophin. Therapies restoring dystrophin include nonsense mutation readthrough, exon skipping, adeno-associated virus (AAV) mediated micro-dystrophin therapy and gene editing. Here we summarize the latest advance of gene therapy for DMD, focusing on strategies that restore dystrophin, hoping to benefit the choosing of optimal gene therapy.

Key words: Muscular dystrophy, Duchenne, Genetic therapy, Review

摘要：

Duchenne 型肌营养不良症是临床常见的遗传性肌肉病，系肌细胞膜上骨架蛋白抗肌萎缩蛋白（dystrophin）缺失所致，表现为进行性肌无力和肌萎缩并最终死于心力衰竭或呼吸衰竭。目前开展的基因治疗方法可以分为恢复 dystrophin 蛋白表达或补偿 dystrophin 蛋白缺失两种类型，恢复 dystrophin蛋白表达的方法包括无义突变通读、外显子跳跃、腺相关病毒介导的基因替代和基因编辑治疗。了解Duchenne 型肌营养不良症基因治疗的最新研究进展、关注恢复 dystrophin 蛋白表达的研究，对选择最佳基因治疗方案将有所裨益。

关键词: 肌营养不良, 杜氏, 基因治疗, 综述