阿尔茨海默病分子遗传学研究进展

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的病因很复杂,但年龄老化与遗传因素为众所共识的病因。目前作用明确的与AD发生相关的基因主要有淀粉样前体蛋白基因、早老素-1基因、早老素-2基因和载脂蛋白E基因,而这4种基因的遗传特性只能解释很少部分AD发病,这就提示还有其他遗传因素参与AD的发病。本文综述了近10年来一些主要的AD候选基因的研究进展。

Progresses in Studies on Molecular Genetics of Alzheimer's Disease

Alzheimer's disease is a genetically complex disorder, and to date, three genes〔those that encode amyloid precursor protein(APP) and the presenilins(PS1 and PS2)〕 have been found to cause early onset familial AD and one genetic risk factor that encodes apolipoprotein E(APOE) lead to late onset AD. In addition to the mutations in 4 known genes associated with AD, mutations in other genes may be implicated in the pathogenesis of the disease. A large number of studies that aimed to help uncover the remaining disease-related loci have been published in recent decades. The search continues for the discovery of additional genetic influences. Here we provide a review on some main AD candidate genes.