中国科技核心期刊
CN:31-1600/Q
ISSN:1004-0374
“健康与疾病的免疫”国际学术研讨会通知      关于有网站冒充本刊网站的声明
《生命科学》 2014, 26(1): 15-26
老年痴呆的遗传机制研究进展
金范莹,张宝荣*
(浙江大学医学院附属第二医院神经内科,杭州 310009)
摘 要:老年痴呆症,又称阿尔茨海默病(Alzheimer’s disease, AD),是威胁老年人健康的主要疾病之一。根据发病年龄,AD 可分为早发性(early-onset Alzheimer’s disease, EOAD) 和迟发性(late-onset Alzheimer’s disease, LOAD) 两种,两者均受到遗传因素的影响。目前已知3 个致病基因导致家族性EOAD 的发病:淀粉样前体蛋白基因(β-amyloid precursor protein, APP)、早老素1 基因(presenilin 1, PSEN1) 和早老素2 基因(presenilin 2, PSEN2)。而近年来在全基因组关联分析(genome-wide association study, GWAS) 等新技术的支持下,研究者相继发现并报道了一系列影响LOAD 易感性的风险基因多态性位点。试对上述AD 相关致病基因和主要风险基因加以简要介绍,深入探索这些基因的功能有助于对AD 病理生理机制的认知。
 
The genetics of Alzheimer’s disease: a review of recent progress
JIN Fan-Ying, ZHANG Bao-Rong*
(Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China)
Abstract: Alzheimer's disease (AD) is one of the major threats to the health of aged people. The disease could be divided into two categories according to onset age. One is early-onset Alzheimer's disease (EOAD), and the other is late-onset Alzheimer's disease (LOAD), both influenced by genetic factors. For EOAD, three disease-causing genes have been found: the amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). And as to LOAD, supported by the development of new genetic analysis technologies such as genome-wide association study (GWAS) in the past few years, researchers also reported a series of risk genes altering people's susceptibility to the disease. In this review we give a brief introduction of the AD-related disease-causing gene mutations and the top risk gene variants showing the strongest associations with AD. Further exploring of gene functions may contribute to a better understanding of the physiopathologic mechanism of Alzheimer's disease.
 
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