PDF(Pubmed)
Abstract：
Duchenne muscular dystrophy (DMD) is a serious genetic neuromuscular rare disease that is prevalent and caused by the mutation/deletion of the X-linked DMD gene that encodes dystrophin. Utrophin is a dystrophin homologous protein on human chromosome 6. Dystrophin and utrophin are highly homologous. They can recruit many dystrophin-glycoprotein complex (DGC)-related proteins and co-localize at the sarcolemma in the early stage of human embryonic development. Moreover, utrophin is overexpressed naturally at the mature myofiber sarcolemma in DMD patients. Therefore, utrophin is considered the most promising homologous protein to replace dystrophin. This review summarizes various modulating drugs and gene therapy approaches for utrophin replacement. As a universal method to treat DMD disease, utrophin has a promising therapeutic prospect and deserves further investigation.
摘要：
杜氏肌营养不良症(DMD)是一种严重的遗传性神经肌肉罕见疾病,其普遍存在并且由编码肌营养不良蛋白的X连锁DMD基因的突变/缺失引起。Utrophin是人6号染色体上的肌营养不良蛋白同源蛋白。肌养蛋白和肌养蛋白高度同源。它们可以募集许多与肌营养不良蛋白-糖蛋白复合物（DGC）相关的蛋白质，并在人类胚胎发育的早期阶段共同定位在肌膜上。此外，在DMD患者的成熟肌纤维肌膜中，肌萎缩素自然过表达。因此,肌养蛋白被认为是替代肌养蛋白最有希望的同源蛋白。这篇综述总结了各种调节营养蛋白替代的药物和基因治疗方法。作为治疗DMD疾病的通用方法，营养蛋白具有良好的治疗前景，值得进一步研究。
