Evidence against the overexpression of APP in Down syndrome

被引：10

作者：

Argellati, F ^{[1
]}

Massone, S ^{[1
]}

d'Abramo, C ^{[1
]}

Marinari, UM ^{[1
]}

Pronzato, MA ^{[1
]}

Domenicotti, C ^{[1
]}

Ricciarelli, R ^{[1
]}

机构：

[1] Univ Genoa, Dept Expt Med, I-16132 Genoa, Italy

来源：

IUBMB LIFE | 2006年 / 58卷 / 02期

关键词：

Down syndrome; APP; amyloid-beta deposits;

D O I：

10.1080/15216540600644853

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Down syndrome (DS) is the most common genetic disorder with mental retardation and is caused by trisomy 21. By the age of 40 years, virtually all adults with DS have sufficient neuropathology for a diagnosis of Alzheimer's disease (AD), which is characterized by accumulation of amyloid-beta in senile plaques and formation of neurofibrillary tangles. Amyloid-beta derives from a longer precursor protein, APP, whose gene maps to chromosome 21. In DS, the early appearance of senile plaques is commonly associated with the presence of a third copy of the APP gene. Here we show DS brains and trisomic fibroblasts in which APP is not overexpressed, compared to euploid controls, challenging the notion that the widespread amyloid-beta deposits, consistently found in DS individuals, result from an extra copy of APP.

引用

页码：103 / 106

页数：4

共 13 条

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