帕金森病相关SNCA基因位点的研究进展  

Research progress of SNCA gene loci related to Parkinson’s disease

作　　者：王一帆 简崇东[2] WANG Yifan;JIAN Chongdong(Youjiang Medical College for Nationalities,Baise 533000,China;Affiliated Hospital of Youjiang Medical College for Nationalities,Baise 533000,China)

机构地区：[1]右江民族医学院,广西白色533000 [2]右江民族医学院附属医院,广西白色533000

出　　处：《中国实用神经疾病杂志》2021年第19期1742-1748,共7页Chinese Journal of Practical Nervous Diseases

基　　金：国家自然科学基金地区科学基金项目(编号:81860244);广西自然科学基金面上项目(编号:2018GXNSFAA281051);广西自然科学基金面上项目(编号:2020GXNSFAA259057);右江民族医学院附属医院2019年第一批高层次人才科研项目(编号:R20196308)。

摘　　要：帕金森病(Parkinson.sdisease,PD)是神经系统变性疾病中的一种,以中老年人发病多见,黑质多巴胺能神经元的丢失及路易小体(LB)的形成是其主要病理特征,而路易小体的主要成分是α-突触核蛋白,同时SNCA基因参与编码α-突触核蛋白(α-synuclein,α-syn),该基因的突变可引起α-syn的过量表达,进而形成路易小体,导致帕金森病的发生,故对SNCA基因的相关研究在帕金森病中具有重要意义。目前,已有众多研究对SNCA基因与PD的发病风险及相关性进行探讨。本文主要对近年来SNCA基因中的一些基因位点研究进展进行分析,以期对临床研究有一定的导向作用。Parkinson’s disease(PD)is one of the neurodegenerative disease,its main pathological characteristics of the loss of dopaminergic neurons in the substantia nigra and Louis corpuscle(LB)is formed,and Louis corpuscle mainly of alpha-synuclein,at the same time SNCA gene involved in coding alpha-synuclein(alpha synuclein,alpha syn),the gene mutation can cause excessive expression of alpha syn,and Louis corpuscle,lead to the occurrence of Parkinson’s disease.Therefore,it is of great significance to study the correlation of SNCA gene in Parkinson’s disease.At present,numerous studies have investigated the risk and correlation between SNCA gene and PD.This paper mainly analyzes the research progress of SNCA gene loci,which are widely studied in recent years,in order to provide certain guidance for clinical research.

关 键 词：帕金森病 SNCA基因 基因多态性 Α-突触核蛋白 

分 类 号：R742.5[医药卫生—神经病学与精神病学]