PARK基因家族在骨骼肌肌病中的研究进展

The roles of PARK gene family in myopathy

PARK作为帕金森病的致病基因家族,在帕金森病的发生发展中发挥了关键作用。近年来的研究表明,这一关键基因家族在骨骼肌肌病的发生发展中也发挥着重要作用,作为运动神经元修饰剂,保护神经元的完整性,参与骨骼肌神经–肌肉接头处神经信号的传递,骨骼肌能量代谢及线粒体质量控制、同时调控肌生成因子表达,促进肌肉再生,维持肌肉含量和功能。本文主要综述了PARK基因家族在骨骼肌肌病中的研究进展,总结了骨骼肌肌病发生的分子机制及研究方向,以期为进一步研究PARK家族在骨骼肌肌病发生发展中的作用提供参考,为理解骨骼肌肌病分子病理机制及临床诊断和治疗带来新的启示。

The causative gene family of Parkinson's disease,PARK,plays important roles in the regulation of skeletal myopathy and is also involved in multiple biological processes,such as the modification of motor neurons,the transmission of nerve signals at the nerve-muscle junction,the regulation of skeletal muscle energy metabolism and mitochondrial quality,and the expression of myogenesis factors.PARK gene family regulates skeletal muscle mass,functions through a multi-level regulatory system,and plays a key role in the occurrence and development of skeletal myopathy.In this review,we summarize the structural characteristics,functions,and research of the PARK gene family in skeletal myopathy,providing a theoretical foundation and future research direction for in-depth study of the molecular mechanism for skeletal myopathy and giving references to further study on the role of PARK family in the development,the pathology,clinical diagnosis,and treatment of skeletal myopathy.