Bansal Dimple, Campbell Kevin P
Howard Hughes Medical Institute, Department of Physiology and Biophysics and Department of Neurology, University of Iowa, Roy J. & Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA.
Trends Cell Biol. 2004 Apr;14(4):206-13. doi: 10.1016/j.tcb.2004.03.001.
Muscular dystrophy covers a group of genetically determined disorders that cause progressive weakness and wasting of the skeletal muscles. Dysferlin was identified as a gene mutated in limb-girdle muscular dystrophy (type 2B) and Miyoshi myopathy. The discovery of dysferlin revealed a new family of proteins, known as the ferlin family, which includes four different genes. Recent work suggests the function of dysferlin in membrane repair and demonstrates that defective membrane repair is a novel mechanism of muscle degeneration. These findings reveal the importance of a basic cellular function in skeletal muscle and a new class of muscular dystrophy where the defect lies in the maintenance, not the structure, of the plasma membrane. Here, we discuss the current knowledge of dysferlin function in the repair of the plasma membrane of the skeletal muscle cells.
肌肉营养不良症涵盖了一组由基因决定的疾病，这些疾病会导致骨骼肌进行性无力和萎缩。肌膜蛋白被鉴定为在肢带型肌营养不良症（2B型）和宫下肌病中发生突变的基因。肌膜蛋白的发现揭示了一个新的蛋白质家族，即ferlin家族，其中包括四个不同的基因。最近的研究表明肌膜蛋白在膜修复中的作用，并证明有缺陷的膜修复是肌肉退化的一种新机制。这些发现揭示了一种基本细胞功能在骨骼肌中的重要性，以及一类新的肌肉营养不良症，其缺陷在于质膜的维持而非结构。在此，我们讨论目前关于肌膜蛋白在骨骼肌细胞质膜修复中功能的认识。
