生理科学进展2024,Vol.55Issue(6) :537-545.DOI:10.20059/j.cnki.pps.2024.06.1047

线粒体相关帕金森病致病基因的研究进展

Research Progress on Mitochondria-Related Genes in Parkinson's Disease

解瑛傲 孔健达 方雨晴 毛飞 李秀华
生理科学进展2024,Vol.55Issue(6) :537-545.DOI:10.20059/j.cnki.pps.2024.06.1047

线粒体相关帕金森病致病基因的研究进展

Research Progress on Mitochondria-Related Genes in Parkinson's Disease

解瑛傲 1孔健达 2方雨晴 3毛飞 4李秀华4
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作者信息

  • 1. 济宁医学院临床医学院,济宁 272002
  • 2. 曲阜师范大学体育科学学院,济宁 273165
  • 3. 山东中医药大学博士后科研流动站,济南 250355;山东第一医科大学第一附属医院(山东省千佛山医院)神经内科,济南 250014
  • 4. 山东第一医科大学第一附属医院(山东省千佛山医院)神经内科,济南 250014
  • 折叠

摘要

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.

Abstract

Parkinson's disease(PD)is a chronic,progressive neurodegenerative disorder charac-terized 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.Mito-chondrial 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 pro-tein translation,the mitochondrial respiratory chain,and mitochondrial metabolism,participat-ing in the regulation of mitochondrial function and mitochondrial quality control,ultimately lead-ing 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 identi-fied.

关键词

帕金森病/线粒体/致病基因/线粒体DNA

Key words

Parkinson's disease/mitochondria/pathogenic genes/mitochondrial DNA

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出版年

2024
生理科学进展
中国生理学会,北京大学

生理科学进展

CSTPCD北大核心
影响因子:0.635
ISSN:0559-7765
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