早发性阿尔茨海默病，其早老素-1突变位点与伏尔加德意志人早老素-2突变位点相对应。
Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.
作者信息
Crook R, Ellis R, Shanks M, Thal L J, Perez-Tur J, Baker M, Hutton M, Haltia T, Hardy J, Galasko D
机构信息
Department of Psychiatry, University of South Florida, Tampa, USA.
出版信息
Ann Neurol. 1997 Jul;42(1):124-8. doi: 10.1002/ana.410420121.
We describe a new mutation causing Alzheimer's disease (AD) in presenilin-1 (N135D) that is at the homologous site to the presenilin 2 mutation (N141I) in Volga German kindreds. The phenotype of PS1 N135D is an early-onset (34-38 years) disease. The mutation forms part of, and extends, the alpha-helical array of mutations in transmembrane 2 of the presenilins and leads to the suggestion that disruption of this helical face is the molecular insult that leads to disease.
我们描述了一种在早老素-1（N135D）中导致阿尔茨海默病（AD）的新突变，该突变位于伏尔加德意志人家族中早老素2突变（N141I）的同源位点。PS1 N135D的表型是早发型（34 - 38岁）疾病。该突变构成早老素跨膜2区α螺旋突变阵列的一部分并加以扩展，这表明该螺旋面的破坏是导致疾病的分子损伤。
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