Faculty of Biology, Institute of Human Biology and Evolution, Adam Mickiewicz University, ul. Uniwersytetu Poznańskiego 6, 61-614, Poznań, Poland.
Cell Mol Life Sci. 2021 Jun;78(11):4867-4891. doi: 10.1007/s00018-021-03821-x. Epub 2021 Apr 7.
Duchenne muscular dystrophy (DMD) is a devastating chromosome X-linked disease that manifests predominantly in progressive skeletal muscle wasting and dysfunctions in the heart and diaphragm. Approximately 1/5000 boys and 1/50,000,000 girls suffer from DMD, and to date, the disease is incurable and leads to premature death. This phenotypic severity is due to mutations in the DMD gene, which result in the absence of functional dystrophin protein. Initially, dystrophin was thought to be a force transducer; however, it is now considered an essential component of the dystrophin-associated protein complex (DAPC), viewed as a multicomponent mechanical scaffold and a signal transduction hub. Modulating signal pathway activation or gene expression through epigenetic modifications has emerged at the forefront of therapeutic approaches as either an adjunct or stand-alone strategy. In this review, we propose a broader perspective by considering DMD to be a disease that affects myofibers and muscle stem (satellite) cells, as well as a disorder in which abrogated communication between different cell types occurs. We believe that by taking this systemic view, we can achieve safe and holistic treatments that can restore correct signal transmission and gene expression in diseased DMD tissues.
杜氏肌营养不良症(DMD)是一种破坏性的 X 连锁疾病,主要表现为进行性骨骼肌萎缩和心脏、膈肌功能障碍。大约每 5000 名男孩和每 5000 万女孩中就有 1 名患有 DMD,迄今为止,这种疾病无法治愈,会导致过早死亡。这种表型严重程度是由于 DMD 基因突变导致功能性肌营养不良蛋白缺失所致。最初,肌营养不良蛋白被认为是力传感器;然而,现在它被认为是肌营养不良蛋白相关蛋白复合物(DAPC)的一个重要组成部分,被视为一个多成分机械支架和信号转导中心。通过表观遗传修饰来调节信号通路激活或基因表达已成为治疗方法的前沿,无论是作为辅助治疗还是独立治疗策略。在这篇综述中,我们提出了一个更广泛的观点,认为 DMD 是一种影响肌纤维和肌肉干细胞(卫星)细胞的疾病,也是一种不同细胞类型之间通讯中断的疾病。我们相信,通过这种系统的观点,我们可以实现安全和整体的治疗方法,以恢复患病 DMD 组织中的正确信号传递和基因表达。