β-Secretases, Alzheimer's Disease, and Down Syndrome

Individuals with Down Syndrome (DS), or trisomy 21, develop Alzheimer's disease (AD) pathology by approximately 40 years of age. Chromosome 21 harbors several genes implicated in AD, including the amyloid precursor protein and one homologue of the β-site APP cleaving enzyme, BACE2. Processing o...

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Main Authors: Webb, Robin L., Murphy, M. Paul
Format: Online
Language:English
Published: Hindawi Publishing Corporation 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299320/
id pubmed-3299320
recordtype oai_dc
spelling pubmed-32993202012-04-05 β-Secretases, Alzheimer's Disease, and Down Syndrome Webb, Robin L. Murphy, M. Paul Review Article Individuals with Down Syndrome (DS), or trisomy 21, develop Alzheimer's disease (AD) pathology by approximately 40 years of age. Chromosome 21 harbors several genes implicated in AD, including the amyloid precursor protein and one homologue of the β-site APP cleaving enzyme, BACE2. Processing of the amyloid precursor protein by β-secretase (BACE) is the rate-limiting step in the production of the pathogenic Aβ peptide. Increased amounts of APP in the DS brain result in increased amounts of Aβ and extracellular plaque formation beginning early in life. BACE dysregulation potentially represents an overlapping biological mechanism with sporadic AD and a common therapeutic target. As the lifespan for those with DS continues to increase, age-related concerns such as obesity, depression, and AD are of growing concern. The ability to prevent or delay the progression of neurodegenerative diseases will promote healthy aging and improve quality of life for those with DS. Hindawi Publishing Corporation 2012 2012-02-28 /pmc/articles/PMC3299320/ /pubmed/22481915 http://dx.doi.org/10.1155/2012/362839 Text en Copyright © 2012 R. L. Webb and M. P. Murphy. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Webb, Robin L.
Murphy, M. Paul
spellingShingle Webb, Robin L.
Murphy, M. Paul
β-Secretases, Alzheimer's Disease, and Down Syndrome
author_facet Webb, Robin L.
Murphy, M. Paul
author_sort Webb, Robin L.
title β-Secretases, Alzheimer's Disease, and Down Syndrome
title_short β-Secretases, Alzheimer's Disease, and Down Syndrome
title_full β-Secretases, Alzheimer's Disease, and Down Syndrome
title_fullStr β-Secretases, Alzheimer's Disease, and Down Syndrome
title_full_unstemmed β-Secretases, Alzheimer's Disease, and Down Syndrome
title_sort β-secretases, alzheimer's disease, and down syndrome
description Individuals with Down Syndrome (DS), or trisomy 21, develop Alzheimer's disease (AD) pathology by approximately 40 years of age. Chromosome 21 harbors several genes implicated in AD, including the amyloid precursor protein and one homologue of the β-site APP cleaving enzyme, BACE2. Processing of the amyloid precursor protein by β-secretase (BACE) is the rate-limiting step in the production of the pathogenic Aβ peptide. Increased amounts of APP in the DS brain result in increased amounts of Aβ and extracellular plaque formation beginning early in life. BACE dysregulation potentially represents an overlapping biological mechanism with sporadic AD and a common therapeutic target. As the lifespan for those with DS continues to increase, age-related concerns such as obesity, depression, and AD are of growing concern. The ability to prevent or delay the progression of neurodegenerative diseases will promote healthy aging and improve quality of life for those with DS.
publisher Hindawi Publishing Corporation
publishDate 2012
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299320/
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