脊髓小脑性共济失调3型发病机制的研究进展  

The reserch progress in the pathogenesis of Spinocerebellar Ataxia Type 3

作　　者：李琼[1] 黄强[1] 曾爱源[1] 

机构地区：[1]桂林医学院附属医院神经内科,541001

出　　处：《国际遗传学杂志》2014年第5期240-244,共5页International Journal of Genetics

基　　金：基金项目：国家自然科学基金（81241128）;广西自然科学基金（2011GXNSFA018232）

摘　　要：脊髓小脑性共济失调3型/马查多-约瑟夫疾病（SCA3/MJD）是一种常染色体显性遗传的迟发性神经退行性疾病,其致残率、病死率高.该疾病严重威胁患者的身心健康和生活质量.对于该病的确切发病机制还未完全阐明,临床亦无有效的治疗方法.目前国内外的研究表明,该疾病与致病基因、致病蛋白、神经元内包涵体、泛素-蛋白酶体通路、自噬-溶酶体通路、基因转录、分子伴侣、线粒体氧化应激、细胞凋亡等多种因素相关.该文就该病发病机制的研究进展作一简要的综述.Spinocerebellar Ataxia Type 3 / Machado-Joseph Disease （SCA3/MJD） is an autosoreal dominantly inherited late-onset neurodegenerative disorder, with high morbidity and high mortality. This disease is a serious threat to the heahh and quality of life for SCD3/MJD patients. The exact pathogenesis of this disease is still poorly understood. Also, effective treatment for SCD3 is lacking in clinics. The current domestic and international research shows that a number of factors related to this disease such as disease genes, pathogenic proteins, neuronal intranuclear inclusions, ubiquitin- proteasome pathway, autophagy-lysosomal pathway, gene transcription, chaperones, mitochondrial oxidative stress, apoptosis and many other factors. In this paper, we make a brief review about the research progress of the pathogenesis for the disorder.

关 键 词：脊髓小脑性共济失调3型 马查多-约瑟夫疾病 SCA3/MJD 发病机制 

分 类 号：R744.7[医药卫生—神经病学与精神病学]