학술논문
Evidence against the overexpression of APP in down syndrome.
Document Type
Article
Author
Source
Subject
*DOWN syndrome
*HUMAN chromosome abnormalities
*INTELLECTUAL disabilities
*AMYLOID beta-protein
*PROTEINS
*GENETICS
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Language
ISSN
1521-6543
Abstract
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. iubmb Life , 58: 103–106, 2006 [ABSTRACT FROM AUTHOR]