杜兴型肌营养不良症的研究进展

Research progress of Duchenne muscular dystrophy

杜兴型肌营养不良症是一种由抗肌萎缩蛋白基因突变引起的X连锁遗传的进行性变性肌肉疾病,是最常见的进行性肌营养不良症之一。该文就杜兴型肌营养不良症基因诊断的方法选择、实验动物模型的选择、针对原发病因的治疗(包括基因替代疗法、外显子跳跃疗法、基因组编辑、终止密码子通读治疗、干细胞疗法)、针对继发病理反应的治疗以及评估疾病进展的方法等进行综述,旨在丰富临床医师对该疾病的认知,为杜兴型肌营养不良症相关临床诊疗工作提供参考和帮助。

Duchenne muscular dystrophy is an X-linked inherited progressive degenerative muscle disease caused by mutations in the dystrophin gene, and is one of the most common progressive muscular dystrophies. We will review the selection of genetic diagnosis methods for Duchenne muscular dystrophy, the selection of experimental animal models, and treatment for the primary cause(including gene replacement therapy, exon skipping therapy,genome editing, stop codon read-through therapy, and stem cell therapy), the treatment of secondary pathological reactions and methods of assessing disease progression. The purpose is to enrich clinicians’ knowledge of the disease and provide a reference and help for the clinical diagnosis and treatment of Duchenne muscular dystrophy.