Moffat, Kevin G., Patel, S. and Hultén, Maj A. (2009) Trisomy21, Down Syndrome and the origin of Alzheimer's disease. In: British Human Genetics Conference, University of Warwick, England, Aug 31 - Sep 02 2009. Published in: Journal of Medical Genetics, Vol.46 (Suppl. 1). S22-S22. ISSN 0022-2593.

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Abstract

Previously we have shown that foetal ovarian levels of T21 mosaicism may explain the origin of Down syndrome (DS) and the associated maternal age effect. DS individuals reaching ~40 years of age will develop AD, T21 leading to increased amyloidosis. Importantly, normal women, who have had a DS child at a young age, develop AD at an earlier age than other women. Alzheimer’s disease (AD) has two types: early-onset and late-onset. Both types have genetic links. For early-onset the identification of the genes involved have provided good evidence for the amyloid cascade hypothesis. The majority of AD however is sporadic and a number of susceptibility loci have been identified (notably ApoEε4). While more will be uncovered through genome wide association scans, brain aneuploidy may also have a role. Recently a dramatic demonstration of increased chromosome 21 aneuploidy in AD brains ((6–15% versus 0.8–1.8% in control) has demonstrated that this may well contribute to disease pathology. We are currently determining whether the level of T21 mosaicism seen in foetal brain correlates with that seen in foetal ovaries. We hope to ascertain whether T21 mosaicism is likely to play a major role for the origin of sporadic AD.

Item Type:	Conference Item (Paper)
Subjects:	Q Science > QH Natural history > QH426 Genetics
Divisions:	Faculty of Science, Engineering and Medicine > Science > Life Sciences (2010- ) > Biological Sciences ( -2010)
Journal or Publication Title:	Journal of Medical Genetics
Publisher:	B M J Group
ISSN:	0022-2593
Official Date:	September 2009
Dates:	Date Event September 2009 Published
Volume:	Vol.46
Number:	Suppl. 1
Number of Pages:	1
Page Range:	S22-S22
Status:	Peer Reviewed
Publication Status:	Published
Access rights to Published version:	Restricted or Subscription Access
Date of first compliant deposit:	25 September 2017
Date of first compliant Open Access:	25 September 2017
Conference Paper Type:	Paper
Title of Event:	British Human Genetics Conference
Type of Event:	Conference
Location of Event:	University of Warwick, England
Date(s) of Event:	Aug 31 - Sep 02 2009

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