Yan Li, Yin Zhao-Xu, Chang Xue-Li, Wang Rui, Zhang Xiu-Min, Guo Jun-Hong
Department of Neurology, First Hospital, Shanxi Medical University, Taiyuan, China.
First Hospital, Shanxi Medical University, Taiyuan, China.
Acta Neurobiol Exp (Wars). 2022;82(4):501-510. doi: 10.55782/ane-2022-048.
Located between skeletal muscle fibers and motoneurons, the neuromuscular junction is a chemical synapse essential for the transmission of information from nervous system to skeletal muscle. There are many diseases related to neuromuscular junction dysfunction, including myasthenia gravis, Lambert‑Eaton myasthenic syndrome, congenital myasthenic syndromes, amyotrophic lateral sclerosis, and spinal muscular atrophy. The pathophysiological mechanisms of these diseases have been investigated using many animal models. Among them, mouse models are the most commonly used and have provided the majority of current data. Moreover, advances in human induced pluripotent stem cell technology has resulted in new opportunities to study neuromuscular junction disorders from both patients and healthy individuals. Currently, patient‑specific induced pluripotent stem cells derived from motor neurons have begun to be studied. These studies will help us achieve a more comprehensive understanding of diseases related to neuromuscular junction disorders. We will describe the research models of neuromuscular junction disorders and provide an overview of recent key findings.
神经肌肉接头位于骨骼肌纤维和运动神经元之间，是神经系统向骨骼肌传递信息所必需的化学突触。有许多与神经肌肉接头功能障碍相关的疾病，包括重症肌无力、兰伯特-伊顿肌无力综合征、先天性肌无力综合征、肌萎缩侧索硬化症和脊髓性肌萎缩症。这些疾病的病理生理机制已通过多种动物模型进行了研究。其中，小鼠模型是最常用的，并且提供了大部分当前数据。此外，人类诱导多能干细胞技术的进步为从患者和健康个体研究神经肌肉接头疾病带来了新机会。目前，源自运动神经元的患者特异性诱导多能干细胞已开始被研究。这些研究将帮助我们更全面地了解与神经肌肉接头疾病相关的疾病。我们将描述神经肌肉接头疾病的研究模型，并概述近期的关键发现。
