老年性痴呆早期的基因变异研究进展  

Progresses on Genetics of Predementia Phase of Alzheimer′s Disease

作　　者：贾建平[1] 王芬[1] 袁泉[1] 秦伟 唐毅[1] 左秀美[1] 韩阅[1] 

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《生物化学与生物物理进展》2012年第8期698-702,共5页Progress In Biochemistry and Biophysics

基　　金：国家自然科学基金重点资助项目(30830045)~~

摘　　要：阿尔茨海默病(Alzheimer's disease,AD)又称老年性痴呆,是老年人常见的神经系统变性疾病.AD包括痴呆前阶段和痴呆阶段,年龄老化与遗传因素为目前公认的发病因素.AD的病理生理过程在痴呆诊断前的5～10年就已开始了,这一漫长的AD痴呆前阶段是治疗干预的关键时期,因此目前痴呆前阶段已成为AD相关研究的热点.本文综述了近年来有关AD各主要阶段基因变异的研究进展.Alzheimer＇s disease （AD） is a genetically complex disorder, and the pathophysiological process of AD is thought to begin many years before the diagnosis of AD dementia. This long pre-dementia phase of AD would provide a critical opportunity for therapeutic intervention. Therefore, pre-dementia stage of AD, including mild cognitive impairment （MCI） and pre-MCI, have attracted great interest and become a focus of the research for AD. Many genes have been reported to contribute to the disease susceptibility. So far, the apolipoprotein E gene （A POE） E4 allele is considered as an only undisputed genetic risk factor for sporadic AD （SAD）. A large number of studies aimed to help uncover the remaining disease-related loci in recent decades, but the genetic researches associated with conversion of pre-MCI, MCI to AD dementia are still rare. Here we provide a review on some main AD candidate genes.

关 键 词：阿尔茨海默病 痴呆前阶段 轻度认知功能障碍 基因多态性 遗传学 

分 类 号：R749.1[医药卫生—神经病学与精神病学]