Duchenne muscular dystrophy (DMD) is an X-linked, recessive and lethal genetic disease, which usually caused by gene mutations and the underlying mechanisms are complicated and diverse. The causal gene of DMD is the largest one in human that locates in the region of Xp21.2, encoding dystrophin. Currently there is no effective treatment for DMD patients. The treatment of DMD depends on gene mutation and molecular mechanism study of the disease, which requires reliable disease models such as mdx mouse model. Recently, researchers have increasingly discovered gene therapy strategies for DMD, and the efficacy has been demonstrated in DMD animal models. In addition, induced pluripotent stem cell technology can provide patient-specific cell source, offering a new platform for mechanism and therapy study of DMD.
杜氏肌营养不良（DMD）是一种X连锁隐性致死性遗传病，通常由基因突变致病，其发病机制复杂多样。该病的致病基因是人类最大的基因，位于Xp21.2区，编码抗肌萎缩蛋白。目前，DMD患者尚无有效的治疗方案。DMD的基因突变及分子机制研究可为其治疗研究打下基础，而后者的进行又需建立在DMD疾病模型之上，如mdx小鼠模型等。随着研究的深入，DMD基因治疗策略不断提出，并在动物模型上取得了不错的效果。除此之外，诱导多能干细胞技术可提供患者特异的细胞来源，为DMD发病机制及治疗研究提供新的平台。