Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.
Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.
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DOI：
10.3233/jnd-170251
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发表时间：
2018-01-01
影响因子：
3.3
通讯作者：
Bartoli, Marc
中科院分区：
文献类型：
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作者：
Barthelemy, Florian;Defour, Aurelia;Bartoli, Marc
骨骼肌在生理状态下经历了许多微膜损伤。根据它们的大小和程度，这些损伤在特定的时空方式下通过不同的复合物进行修复。其中一个主要的修复复合体是一种依赖于异草素的机制。因此，编码异铁蛋白的DYSF基因的突变导致几种称为异铁蛋白病的肌肉病理的发展，其中在患者和动物模型中表征了膜修复过程的异常。最近的努力已经部署到破译异常素的功能，他们阐明了其在损伤后肌膜重新封闭的直接含义。这些发现为设计dysferlin缺乏患者的治疗方法提供了坚实的基础。本文就异常铁蛋白在正常和病理状态下的作用及其在肌膜修复中的地位作一综述。
Skeletal muscle undergoes many micro-membrane lesions at physiological state. Based on their sizes and magnitude these lesions are repaired via different complexes on a specific spatio-temporal manner. One of the major repair complex is a dysferlin-dependent mechanism. Accordingly, mutations in the DYSF gene encoding dysferlin results in the development of several muscle pathologies called dysferlinopathies, where abnormalities of the membrane repair process have been characterized in patients and animal models. Recent efforts have been deployed to decipher the function of dysferlin, they shed light on its direct implication in sarcolemma resealing after injuries. These discoveries served as a strong ground to design therapeutic approaches for dysferlin-deficient patients. This review detailed the different partners and function of dysferlin and positions the sarcolemma repair in normal and pathological conditions.