帕金森病相关基因功能研究进展

doi:10.3724/SP.J.1005.2010.00779

遗传 ›› 2010, Vol. 32 ›› Issue (8): 779-784.doi: 10.3724/SP.J.1005.2010.00779

帕金森病相关基因功能研究进展

王香明, 王丹巧, 汪晓燕

中国中医科学院医学实验中心, 北京 100700

收稿日期:2009-11-24 修回日期:2010-03-19 出版日期:2010-08-20 发布日期:2010-08-23
通讯作者: 王丹巧 E-mail:dq_wang96@hotmail.com
基金资助:
国家自然科学基金项目(编号：03772780)和中国中医科学院基本科研业务费课题项目(编号：ZZ2007011)资助

Function study advances of Parkinson¢s disease related genes

WANG Xiang-Ming, WANG Dan-Qiao, WANG Xiao-Yan

China Academy of Chinese Medical Science, the Experimental Research Center, Beijing 100700, China

Received:2009-11-24 Revised:2010-03-19 Online:2010-08-20 Published:2010-08-23
Contact: WANG Dan-Qiao E-mail:dq_wang96@hotmail.com

摘要/Abstract

摘要： 帕金森病(Parkinson’s disease, PD )是一种较为常见的锥体外系疾病, 主要症状是运动减少、肌强直和震颤; 主要病理特征是黑质致密区多巴胺神经元缺失, 剩余神经元含有Lewy小体。PD的发病机制尚未完全清楚, 一般认为与年龄及环境因素相关。近年来PD遗传学研究取得了长足的进步, 确定了遗传因素在PD发病过程中的重要作用, 发现并鉴定了多个与帕金森病相关的基因: SNCA、LRRK、PINK1、parkin、DJ1和UCHL1等。文章对上述相关基因的功能研究进展进行综述, 为进一步探讨PD发病机制提供参考。

关键词: 基因功能, 分子机制, 帕金森病, 遗传

Abstract: Parkinson¢s disease (PD) is a common extrapyramidal disease, of which the cardinal symptoms are hypokinesia, muscular rigidity, and tremor. The main pathological characteristics of this disease are loss of dopamine neurons in substantia nigra pars compacta, and residual neurons often contain Lewy bodies. The PD pathogenesis is still not well known, while it is generally recognized that age and environmental factors participate in it. In recent years, genetic research on PD has made considerable progresses that genetic factors play important roles on the pathogenesis of PD, and multiple PD related genes, such as SNCA, LRRK2, PINK1, parkin, UCHL1, and DJ1, have been identified. This article summarizes recent progresses on these genes to provide reference for PD study.

Key words: genetics, gene function, molecular mechanism, Parkinson’s disease

王香明，王丹巧，汪晓燕. 帕金森病相关基因功能研究进展[J]. 遗传, 2010, 32(8): 779-784.

WANG Xiang-Meng, WANG Dan-Qiao, HONG Xiao-Yan. Function study advances of Parkinson¢s disease related genes[J]. HEREDITAS, 2010, 32(8): 779-784.

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帕金森病相关基因功能研究进展

Function study advances of Parkinson¢s disease related genes

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