微小RNA与多聚谷氨酰胺病  

MicroRNAs and polyglutamine diseases

作　　者：张莉[1] 江泓 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008 [2]神经退行性性疾病研究中心

出　　处：《中华医学遗传学杂志》2013年第6期683-686,共4页Chinese Journal of Medical Genetics

基　　金：国家重点基础研究发展计划（“973”计划）（2011CB510002,2012CB517902,2012CB944601）;教育部新世纪优秀人才支持计划项目（NCET-10-0836）;国家自然科学基金（81271260,30971585,30871354,30710303061,30400262）

摘　　要：多聚谷氨酰胺（polyglutamine，PolyQ）病是一类具有明显的临床和遗传异质性的神经系统退行性疾病，尽管拥有致病基因编码区CAG三核苷酸重复动态突变这一共同发病机制，它们的临床表现却各不相同，且缺乏有效的治疗手段。近年来，微小RNA作为一类重要的转录后重要因子在PolyQ病的发病中所扮演的角色及其潜在的治疗价值受到了研究者的关注。Polyglutamine（PolyQ） diseases comprise a group of inherited neurodegenerative disorders with significant clinical and genetic heterogeneity. Although they share a common mechanism involving dynamic expansion of CAG trinucleotide repeats, their clinical features may vary and there has been no specific treatment. Recently, much attention had been attracted to microRNAs which, as a new type of posttranscription regulatory factor, have proven to significantly affect the progress of PolyQ disease. This review will focus on the roles of microRNAs in the pathogenesis of PolyQ diseases and their potential use for therapy.

关 键 词：多聚谷氨酰胺病 微小RNA 基因转录调控 发病机制 治疗 

分 类 号：R741[医药卫生—神经病学与精神病学]