Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP
File(s)Wiseman Brain 2018.pdf (1.49 MB)
Published version
Author(s)
Type
Journal Article
Abstract
Down syndrome, caused by trisomy of chromosome 21, is the single most common risk factor for early-onset Alzheimer's disease. Worldwide approximately 6 million people have Down syndrome, and all these individuals will develop the hallmark amyloid plaques and neurofibrillary tangles of Alzheimer's disease by the age of 40 and the vast majority will go on to develop dementia. Triplication of APP, a gene on chromosome 21, is sufficient to cause early-onset Alzheimer's disease in the absence of Down syndrome. However, whether triplication of other chromosome 21 genes influences disease pathogenesis in the context of Down syndrome is unclear. Here we show, in a mouse model, that triplication of chromosome 21 genes other than APP increases amyloid-β aggregation, deposition of amyloid-β plaques and worsens associated cognitive deficits. This indicates that triplication of chromosome 21 genes other than APP is likely to have an important role to play in Alzheimer's disease pathogenesis in individuals who have Down syndrome. We go on to show that the effect of trisomy of chromosome 21 on amyloid-β aggregation correlates with an unexpected shift in soluble amyloid-β 40/42 ratio. This alteration in amyloid-β isoform ratio occurs independently of a change in the carboxypeptidase activity of the γ-secretase complex, which cleaves the peptide from APP, or the rate of extracellular clearance of amyloid-β. These new mechanistic insights into the role of triplication of genes on chromosome 21, other than APP, in the development of Alzheimer's disease in individuals who have Down syndrome may have implications for the treatment of this common cause of neurodegeneration.
Date Issued
2018-06-26
Date Acceptance
2018-04-18
Citation
Brain, 2018, 141 (8), pp.2457-2474
ISSN
1460-2156
Publisher
Oxford University Press (OUP)
Start Page
2457
End Page
2474
Journal / Book Title
Brain
Volume
141
Issue
8
Copyright Statement
© The Author(s) (2018). Published by Oxford University Press on behalf of the Guarantors of Brain.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/
4.0/), which permits unrestricted reuse,
distribution, and reproduction in any medium, provided the original work is properly cited.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/
4.0/), which permits unrestricted reuse,
distribution, and reproduction in any medium, provided the original work is properly cited.
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/29945247
PII: 5043552
Subjects
Alzheimer Disease
Amyloid beta-Peptides
Amyloid beta-Protein Precursor
Animals
Brain
Disease Models, Animal
Down Syndrome
Female
Humans
Male
Mice
Mice, Inbred C57BL
Neurofibrillary Tangles
Plaque, Amyloid
Trisomy
London Down syndrome consortium
LonDownS Consortium
Brain
Neurofibrillary Tangles
Animals
Mice, Inbred C57BL
Humans
Mice
Alzheimer Disease
Down Syndrome
Disease Models, Animal
Trisomy
Amyloid beta-Protein Precursor
Female
Male
Amyloid beta-Peptides
Plaque, Amyloid
Neurology & Neurosurgery
11 Medical and Health Sciences
17 Psychology and Cognitive Sciences
Publication Status
Published
Coverage Spatial
England
Date Publish Online
2018-06-26