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阿尔茨海默病的遗传病因:来自唐氏综合征的机制性见解。

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.

作者信息

Wiseman Frances K, Al-Janabi Tamara, Hardy John, Karmiloff-Smith Annette, Nizetic Dean, Tybulewicz Victor L J, Fisher Elizabeth M C, Strydom André

机构信息

Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.

Division of Psychiatry, University College London, Maple House, 149 Tottenham Court Road, London W1T 7NF, UK.

出版信息

Nat Rev Neurosci. 2015 Sep;16(9):564-74. doi: 10.1038/nrn3983. Epub 2015 Aug 5.

Abstract

Down syndrome, which arises in individuals carrying an extra copy of chromosome 21, is associated with a greatly increased risk of early-onset Alzheimer disease. It is thought that this risk is conferred by the presence of three copies of the gene encoding amyloid precursor protein (APP)--an Alzheimer disease risk factor--although the possession of extra copies of other chromosome 21 genes may also play a part. Further study of the mechanisms underlying the development of Alzheimer disease in people with Down syndrome could provide insights into the mechanisms that cause dementia in the general population.

摘要

唐氏综合征患者的21号染色体多了一条拷贝,这与早发性阿尔茨海默病风险大幅增加有关。人们认为,这种风险是由编码淀粉样前体蛋白(APP,一种阿尔茨海默病风险因素)的基因有三个拷贝所致,尽管21号染色体上其他基因的额外拷贝也可能起一定作用。进一步研究唐氏综合征患者发生阿尔茨海默病的潜在机制,可能会为普通人群中导致痴呆症的机制提供见解。

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