帕金森病(Parkinson's disease, PD)是一种慢性进展性神经系统退行性疾病,其经典的临床特征包括震颤、肌强直、运动迟缓、姿势步态异常等运动症状以及多种非运动症状。线粒体功能障碍在PD的发病中起关键作用,线粒体相关的致病基因已成为当前研究热点。部分基因突变与PD的发病机制密切相关,线粒体相关的PD致病基因在线粒体动力学、线粒体DNA 稳态、线粒体蛋白质翻译、线粒体呼吸链和线粒体代谢途径等方面发挥作用,参与线粒体功能调节和线粒体质量控制等关键过程,进而导致线粒体结构和功能异常。本文概述了与PD 发生发展直接相关以及其他与线粒体功能有关的PD致病基因,通过深入研究这些基因的功能及其作用机制,有望寻找到更好的PD治疗方法和预防策略。

Parkinson's disease (PD) is a chronic, progressive neurodegenerative disorder characterized by classic clinical features including motor symptoms such as tremor, muscle rigidity, bradykinesia, and abnormal posture and gait, as well as a variety of non-motor symptoms. Mitochondrial dysfunction plays a crucial role in the pathogenesis of PD, propelling genes associated with mitochondrial function to the forefront of current research endeavors. Some gene mutations are closely related to the pathogenesis of PD. Mitochondrial-related PD pathogenic genes include genes involved in mitochondrial dynamics, mitochondrial DNA homeostasis, mitochondrial protein translation, the mitochondrial respiratory chain, and mitochondrial metabolism, participating in the regulation of mitochondrial function and mitochondrial quality control, ultimately leading to structural and functional abnormalities in mitochondria. This article provides an overview of the mitochondrial-related PD pathogenic genes that are directly or indirectly associated with the onset and development of PD. Through in-depth studies of the functions and mechanisms of these genes, it is hoped that better therapeutic methods and prevention strategies for PD can be identified.