Department of Pharmacy, Health, and Nutritional Sciences, University of Calabria, 87036 Arcavacata di Rende, Italy.
Department of Biological and Environmental Sciences and Technologies, University of Salento, 73100 Lecce, Italy.
Biomolecules. 2021 Nov 4;11(11):1633. doi: 10.3390/biom11111633.
Neuromuscular diseases (NMDs) are dysfunctions that involve skeletal muscle and cause incorrect communication between the nerves and muscles. The specific causes of NMDs are not well known, but most of them are caused by genetic mutations. NMDs are generally progressive and entail muscle weakness and fatigue. Muscular impairments can differ in onset, severity, prognosis, and phenotype. A multitude of possible injury sites can make diagnosis of NMDs difficult. Mitochondria are crucial for cellular homeostasis and are involved in various metabolic pathways; for this reason, their dysfunction can lead to the development of different pathologies, including NMDs. Most NMDs due to mitochondrial dysfunction have been associated with mutations of genes involved in mitochondrial biogenesis and metabolism. This review is focused on some mitochondrial routes such as the TCA cycle, OXPHOS, and β-oxidation, recently found to be altered in NMDs. Particular attention is given to the alterations found in some genes encoding mitochondrial carriers, proteins of the inner mitochondrial membrane able to exchange metabolites between mitochondria and the cytosol. Briefly, we discuss possible strategies used to diagnose NMDs and therapies able to promote patient outcome.
神经肌肉疾病（NMDs）是指涉及骨骼肌的功能障碍，导致神经和肌肉之间的通讯错误。NMD 的具体病因尚不清楚，但大多数是由基因突变引起的。NMD 通常是进行性的，会导致肌肉无力和疲劳。肌肉损伤在发病、严重程度、预后和表型上可能存在差异。许多可能的损伤部位会使 NMD 的诊断变得困难。线粒体对于细胞内稳态至关重要，并且参与多种代谢途径；因此，其功能障碍可导致不同的病理发生，包括 NMD。大多数由于线粒体功能障碍引起的 NMD 与涉及线粒体生物发生和代谢的基因的突变有关。本综述重点关注了一些线粒体途径，如 TCA 循环、OXPHOS 和β-氧化，最近发现这些途径在 NMD 中发生了改变。特别关注了一些编码线粒体载体的基因的改变，线粒体载体是能够在线粒体和细胞质之间交换代谢物的内膜蛋白。简要讨论了用于诊断 NMD 的可能策略和能够促进患者预后的治疗方法。
