Neuromuscular diseases (NMDs) are a heterogeneous group of acquired or inherited rare disorders caused by injury or dysfunction of the anterior horn cells of the spinal cord (lower motor neurons), peripheral nerves, neuromuscular junctions, or skeletal muscles leading to muscle weakness and waste. Unfortunately, most of them entail serious or even fatal consequences. The prevalence rates among NMDs range between 1 and 10 per 100,000 population, but their rarity and diversity pose difficulties for healthcare and research. Some molecular hallmarks are being explored to elucidate the mechanisms triggering disease, to set the path for further advances. In fact, in the present review we outline the metabolic alterations of NMDs, mainly focusing on the role of mitochondria. The aim of the review is to discuss the mechanisms underlying energy production, oxidative stress generation, cell signaling, autophagy, and inflammation triggered or conditioned by the mitochondria. Briefly, increased levels of inflammation have been linked to reactive oxygen species (ROS) accumulation, which is key in mitochondrial genomic instability and mitochondrial respiratory chain (MRC) dysfunction. ROS burst, impaired autophagy, and increased inflammation are observed in many NMDs. Increasing knowledge of the etiology of NMDs will help to develop better diagnosis and treatments, eventually reducing the health and economic burden of NMDs for patients and healthcare systems.

中文翻译：

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线粒体缺乏症对神经肌肉疾病的影响

神经肌肉疾病（NMD）是由后天性或遗传性稀有疾病组成的异质性群体，由脊髓前角细胞（下运动神经元），周围神经，神经肌肉接头或骨骼肌的损伤或功能障碍导致肌肉无力和浪费引起。不幸的是，其中大多数都会带来严重甚至致命的后果。每10万人口中NMD的患病率介于1到10之间，但其稀有性和多样性给医疗保健和研究带来了困难。人们正在探索一些分子标志，以阐明引发疾病的机制，为进一步的发展打下基础。实际上，在本综述中，我们概述了NMD的代谢变化，主要集中于线粒体的作用。审查的目的是讨论能源生产的基本机制，氧化应激的产生，细胞信号传导，自噬和由线粒体触发或调节的炎症。简而言之，炎症水平的提高与活性氧（ROS）积累有关，活性氧是线粒体基因组不稳定和线粒体呼吸链（MRC）功能障碍的关键。在许多NMD中观察到ROS破裂，自噬受损和炎症增加。越来越多的NMD病因学知识将有助于发展更好的诊断和治疗方法，最终减轻NMD对患者和医疗系统的健康和经济负担。这是线粒体基因组不稳定性和线粒体呼吸链（MRC）功能障碍的关键。在许多NMD中观察到ROS破裂，自噬受损和炎症增加。越来越多的NMD病因学知识将有助于发展更好的诊断和治疗方法，最终减轻NMD对患者和医疗系统的健康和经济负担。这是线粒体基因组不稳定性和线粒体呼吸链（MRC）功能障碍的关键。在许多NMD中观察到ROS破裂，自噬受损和炎症增加。越来越多的NMD病因学知识将有助于发展更好的诊断和治疗方法，最终减轻NMD对患者和医疗系统的健康和经济负担。