Kerr Jaclyn P, Ward Christopher W, Bloch Robert J
Department of Physiology, University of Maryland School of Medicine Baltimore, MD, USA.
Department of Organizational Systems and Adult Health, University of Maryland School of Nursing Baltimore, MD, USA.
Front Physiol. 2014 Mar 6;5:89. doi: 10.3389/fphys.2014.00089. eCollection 2014.
The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases. In lieu of a genetic cure, treatments to prevent or slow the progression of dysferlinopathy are of the utmost importance. Recent advances in the study of dysferlinopathy have highlighted the necessity for the maintenance of calcium handling in altering or slowing the progression of muscular degeneration resulting from the loss of dysferlin. This review highlights new evidence for a role for dysferlin at the transverse (t-) tubule of striated muscle, where it is involved in maintaining t-tubule structure and function.
与dysferlin基因缺失或突变相关的一类肌肉营养不良症，包括肢带型肌营养不良2B型（LGMD2B）和宫下肌病（MM），是迟发性退行性疾病。由于缺乏基因治疗方法，预防或延缓dysferlinopathy进展的治疗至关重要。dysferlinopathy研究的最新进展突出了维持钙处理在改变或减缓因dysferlin缺失导致的肌肉变性进展中的必要性。本综述强调了dysferlin在横纹肌横（t-）小管中作用的新证据，它在维持t-小管结构和功能中发挥作用。
