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首页> 外文期刊>Molecular and Cellular Biology >Targeted Deletion of the Muscular Dystrophy Gene myotilin Does Not Perturb Muscle Structure or Function in Mice
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Targeted Deletion of the Muscular Dystrophy Gene myotilin Does Not Perturb Muscle Structure or Function in Mice

机译：肌肉营养不良基因myotilin的靶向删除不会干扰小鼠的肌肉结构或功能

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摘要

Myotilin, palladin, and myopalladin form a novel small subfamily of cytoskeletal proteins that contain immunoglobulin-like domains. Myotilin is a thin filament-associated protein localized at the Z-disk of skeletal and cardiac muscle cells. The direct binding to F-actin, efficient cross-linking of actin filaments, and prevention of induced disassembly of filaments are key roles of myotilin that are thought to be involved in structural maintenance and function of the sarcomere. Missense mutations in the myotilin-encoding gene cause dominant limb girdle muscular dystrophy type 1A and spheroid body myopathy and are the molecular defect that can cause myofibrillar myopathy. Here we describe the generation and analysis of mice that lack myotilin, myo?/? mice. Surprisingly, myo?/? mice maintain normal muscle sarcomeric and sarcolemmal integrity. Also, loss of myotilin does not cause alterations in the heart or other organs of newborn or adult myo?/? mice. The mice develop normally and have a normal life span, and their muscle capacity does not significantly differ from wild-type mice even after prolonged physical stress. The results suggest that either myotilin does not participate in muscle development and basal function maintenance or other proteins serve as structural and functional compensatory molecules when myotilin is absent.
机译：Myotilin，palladin和myopalladin形成了一个新的细胞骨架蛋白小亚家族，其中包含免疫球蛋白样结构域。 Myotilin是一种细丝相关的蛋白质，位于骨骼肌和心肌细胞的Z盘上。与F-肌动蛋白的直接结合，肌动蛋白细丝的有效交联以及防止细丝的诱导拆卸是肌醇蛋白的关键作用，据认为这些蛋白参与了肌节的结构维持和功能。编码Myotilin的基因中的错义突变会导致优势肢带型肌营养不良症1A型和球体肌病，并且是可能导致肌原纤维肌病的分子缺陷。在这里，我们描述了缺乏肌醇蛋白， myo ？/？小鼠的小鼠的产生和分析。出乎意料的是， myo ？/？小鼠维持正常的肌肉肌节和肌膜完整性。同样，肌醇蛋白的损失不会引起新生或成年 myo ？/？小鼠的心脏或其他器官的改变。小鼠发育正常，寿命正常，即使长时间承受压力，其肌肉容量与野生型小鼠也没有显着差异。结果表明，当缺乏Myotilin时，要么Myotilin不参与肌肉发育和基础功能维持，要么其他蛋白充当结构和功能补偿分子。

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