文章摘要

帕金森病发病的相关遗传机制

作者: 1陈春霖, 1李婷, 1刘霁莹, 1张雪梅
1 哈尔滨医科大学附属第二医院神经内科，哈尔滨 150081
通讯: 张雪梅 Email: drxuemeizhang@hrbmu.edu.cn
DOI: 10.3978/j.issn.2095-6959.2022.06.033
基金: 哈尔滨医科大学于维汉院士杰出青年基金(002000013)。

摘要

帕金森病(Parkinson’s disease，PD)是第2种最常见的神经退行性疾病，具有不同的病因和广泛的临床特征。PD发病很大一部分与遗传因素有关，自1997年首次发现导致PD的SNCA基因突变以来，许多与PD发病有关的基因已被报道。此外，年龄、环境、糖尿病等多种因素也参与了PD发病。本文总结了参与典型家族性PD的7个基因(SNCA、LRRK2、VPS35、PRKN、PINK1、DJ-1和GBA)，阐述其遗传学、神经病理学和导致PD发生、发展的相关机制。
关键词： 帕金森病；发病机制；遗传机制

Genetic mechanisms related to the pathogenesis of Parkinson’s disease

Authors: 1CHEN Chunlin, 1LI Ting, 1LIU Jiying, 1ZHANG Xuemei
1 Department of Neurology, Second Affiliated Hospital of Harbin Medical University, Harbin 150081, China

CorrespondingAuthor: ZHANG Xuemei Email: drxuemeizhang@hrbmu.edu.cn

DOI: 10.3978/j.issn.2095-6959.2022.06.033

Foundation: This work was supported by the Academician Yu Weihan Outstanding Youth Fund of Harbin Medical University, China (002000013).

Abstract

Parkinson’s disease (PD) is the second most common neurodegenerative disease, with different etiology and a wide range of clinical features. A large part of the incidence of PD is related to genetic factors. Since 1997, for the first time SNCA gene mutation found to cause Parkinson’s disease, many genes related to the pathogenesis of PD have been reported in the literature. In addition, age, environment, diabetes, and many factors are also involved in the pathogenesis of PD. In this review, we summary seven genes (SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, and GBA involved in typical familial PD, explain its genetics, neuropathology and related mechanisms leading to the occurrence and development of PD.

Keywords： Parkinson’s disease; pathogenesis; genetic mechanisms

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