Australian Regenerative Medicine Institute, EMBL Australia, Monash University, Clayton, Victoria 3800, Australia.
Dis Model Mech. 2012 Nov;5(6):726-32. doi: 10.1242/dmm.010082.
Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening. To develop therapies and treatments for these diseases, a better understanding of the molecular basis of muscular dystrophies is required. Thus, identification of causative genes mutated in specific disorders and the study of relevant animal models are imperative. Zebrafish genetic models of human muscle disorders often closely resemble disease pathogenesis, and the optical clarity of zebrafish embryos and larvae enables visualization of dynamic molecular processes in vivo. As an adjunct tool, morpholino studies provide insight into the molecular function of genes and allow rapid assessment of candidate genes for human muscular dystrophies. This unique set of attributes makes the zebrafish model system particularly valuable for the study of muscle diseases. This review discusses how recent research using zebrafish has shed light on the pathological basis of muscular dystrophies, with particular focus on the muscle cell membrane and the linkage between the myofibre cytoskeleton and the extracellular matrix.
肌肉疾病是一组特定影响骨骼肌的遗传疾病，其特征为肌肉进行性退化和减弱。为了开发这些疾病的治疗方法，需要更好地了解肌肉疾病的分子基础。因此，确定在特定疾病中发生突变的致病基因以及研究相关的动物模型是必不可少的。人类肌肉疾病的斑马鱼遗传模型通常与疾病发病机制非常相似，斑马鱼胚胎和幼虫的光学透明度使其能够在体内可视化动态分子过程。作为辅助工具，吗啉代寡核苷酸研究深入了解基因的分子功能，并允许快速评估候选基因用于人类肌肉疾病。这种独特的属性使得斑马鱼模型系统特别有价值用于肌肉疾病的研究。本综述讨论了最近使用斑马鱼的研究如何揭示肌肉疾病的病理基础，特别关注肌细胞膜以及肌纤维细胞骨架与细胞外基质之间的联系。
