Increased Aβ42(43) from cell lines expressing presenilin 1 mutations

被引：88

作者：

Mehta, ND ^{[1
]}

Refolo, LM ^{[1
]}

Eckman, C ^{[1
]}

Sanders, S ^{[1
]}

Yager, D ^{[1
]}

Perez-Tur, J ^{[1
]}

Younkin, S ^{[1
]}

Duff, K ^{[1
]}

Hardy, J ^{[1
]}

Hutton, M ^{[1
]}

机构：

[1] Mayo Clin Jacksonville, Dept Pharmacol, Jacksonville, FL 32224 USA

来源：

ANNALS OF NEUROLOGY | 1998年 / 43卷 / 02期

关键词：

D O I：

10.1002/ana.410430217

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the presenilin 1 (PS1) gene on chromosome 14 are a major cause of autosomal dominant, early-onset Alzheimer's disease. Here, we show that transfecting cells with several mutant, but not wild-type, PS1 cDNAs alters the processing of the amyloid precursor protein (APP) such that more A beta 42(43) is produced, confirming and extending several recent reports. The most effective mutation in this regard was the exon 9 splice-out mutation (Delta 9). The correlation between the size of the effect on APP processing and the age of onset of disease assessed in families with the mutations was not informative, and the possible reasons for this are discussed.

引用

页码：256 / 258

页数：3

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