Almazov National Medical Research Centre, 197341 St. Petersburg, Russia.
Department of Woman and Child Health, Karolinska Institute, 17177 Stockholm, Sweden.
Int J Mol Sci. 2021 Jul 8;22(14):7349. doi: 10.3390/ijms22147349.
Mitochondrial dysfunction is considered the major contributor to skeletal muscle wasting in different conditions. Genetically determined neuromuscular disorders occur as a result of mutations in the structural proteins of striated muscle cells and therefore are often combined with cardiac phenotype, which most often manifests as a cardiomyopathy. The specific roles played by mitochondria and mitochondrial energetic metabolism in skeletal muscle under muscle-wasting conditions in cardiomyopathies have not yet been investigated in detail, and this aspect of genetic muscle diseases remains poorly characterized. This review will highlight dysregulation of mitochondrial representation and bioenergetics in specific skeletal muscle disorders caused by mutations that disrupt the structural and functional integrity of muscle cells.
线粒体功能障碍被认为是导致不同情况下骨骼肌消耗的主要因素。遗传性神经肌肉疾病是由于横纹肌细胞结构蛋白的突变引起的，因此常伴有心脏表型，最常见的表现为心肌病。线粒体和线粒体能量代谢在心肌病引起的骨骼肌消耗条件下的具体作用尚未详细研究，遗传性肌肉疾病的这一方面仍特征不足。这篇综述将重点介绍由于破坏肌肉细胞结构和功能完整性的突变引起的特定骨骼肌疾病中线粒体表达和生物能量的失调。
