阿尔茨海默病的遗传学
The genetics of Alzheimer's disease.
作者信息
Chai Chen K
机构信息
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
出版信息
Am J Alzheimers Dis Other Demen. 2007 Feb-Mar;22(1):37-41. doi: 10.1177/1533317506295655.
Abstract
The genetics of Alzheimer's disease is produced by 3 essentially interactive gene groups: (1) APP and presenilin 1 and 2; (2) APOE E2, E3, and E4; (3) genes on chromosomes 9, 10, 12, etc. If any gene in (1) mutates, beta amyloid (Abeta) increases sharply beyond what the genes of (3) can remove, with early-onset Alzheimer's disease the result. With retention of Abeta by E4 in (2), Alzheimer's disease might result even though (1) and (3) are normal. If any gene in (3) mutates, the level of Abeta will rise, but because many genes are involved in Abeta removal, late-onset Alzheimer's disease would be detected only eventually.
摘要
阿尔茨海默病的遗传学由3个基本相互作用的基因群组产生：（1）淀粉样前体蛋白（APP）以及早老素1和2；（2）载脂蛋白E（APOE）的E2、E3和E4；（3）9号、10号、12号等染色体上的基因。如果（1）中的任何基因发生突变，β淀粉样蛋白（Aβ）会急剧增加，超出（3）中的基因所能清除的范围，结果导致早发性阿尔茨海默病。由于（2）中E4会保留Aβ，即使（1）和（3）正常，也可能导致阿尔茨海默病。如果（3）中的任何基因发生突变，Aβ水平将会升高，但由于许多基因参与Aβ的清除，晚发性阿尔茨海默病最终才会被发现。
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