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Caveolin-3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function.
Journal of Cachexia, Sarcopenia and Muscle ( IF 9.4 ) Pub Date : 2020-02-23 , DOI: 10.1002/jcsm.12541
Dinesh S Shah 1 , Raid B Nisr 1 , Clare Stretton 1 , Gabriela Krasteva-Christ 2 , Harinder S Hundal 1
Affiliation  

Caveolin‐3 (Cav3) is the principal structural component of caveolae in skeletal muscle. Dominant pathogenic mutations in the Cav3 gene, such as the Limb Girdle Muscular Dystrophy‐1C (LGMD1C) P104L mutation, result in substantial loss of Cav3 and myopathic changes characterized by muscle weakness and wasting. We hypothesize such myopathy may also be associated with disturbances in mitochondrial biology. Herein, we report studies assessing the effects of Cav3 deficiency on mitochondrial form and function in skeletal muscle cells.

中文翻译:

与营养不良 P104L 突变相关的 Caveolin-3 缺陷会损害骨骼肌线粒体的形式和功能。

Caveolin-3 (Cav3) 是骨骼肌中小窝的主要结构成分。Cav3 基因中的主要致病突变,如肢带型肌营养不良症-1C (LGMD1C) P104L 突变,导致 Cav3 的大量缺失和以肌肉无力和消瘦为特征的肌病变化。我们假设这种肌病也可能与线粒体生物学紊乱有关。在此,我们报告了评估 Cav3 缺陷对骨骼肌细胞线粒体形式和功能影响的研究。
更新日期:2020-02-23
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