alexa Chromosome missegregation and trisomy 21 mosaicism in Alzheimer's disease.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Down Syndrome & Chromosome Abnormalities

Author(s): Geller LN, Potter H

Abstract Share this page

Abstract

A connection between Alzheimer's disease (AD) and Down syndrome (trisomy 21) is indicated by the fact that all Down syndrome individuals develop Alzheimer's disease neuropathology by the 4th decade of life. Previous studies have examined the frequency of aneuploidy and other chromosomal defects in cells from familial Alzheimer's disease (FAD) patients, with varying results. To investigate the possibility that a specific type of aneuploidy--trisomy 21 mosaicism--may contribute to Alzheimer's disease, we used quantitative fluorescence in situ hybridization to measure the number of trisomy 21 cells in primary fibroblast cultures from AD and unaffected subjects. The 27 AD cultures, including 15 that were derived from individuals carrying FAD mutations in presenilin 1 or 2, exhibited a significant approximately twofold increase in the number of trisomy 21 cells compared to 13 control cultures. A small double-hybridization experiment suggested that the aneuploidy in AD cells was not limited to chromosome 21 but extended at least to chromosome 18 as well. In a parallel study, the endogenous presenilin proteins in fibroblasts were localized to the centrosomes, the nuclear envelope, and its associated interphase kinetochores. Together these results indicate that the presenilin proteins may be involved in mitosis and that FAD mutations in the presenilin genes may predispose to chromosome missegregation (nondisjunction). The data reported here also suggest that trisomy 21 mosaicism may contribute to other forms of AD that are not caused by a presenilin mutation.

This article was published in Neurobiol Dis and referenced in Journal of Down Syndrome & Chromosome Abnormalities

Relevant Expert PPTs

Relevant Speaker PPTs

Recommended Conferences

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri, Food, Aqua and Veterinary Science Journals

Dr. Krish

agrifoodaquavet@omicsonline.com

1-702-714-7001 Extn: 9040

Clinical and Biochemistry Journals

Datta A

clinical_biochem@omicsonline.com

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

business@omicsonline.com

1-702-714-7001Extn: 9042

Chemical Engineering and Chemistry Journals

Gabriel Shaw

chemicaleng_chemistry@omicsonline.com

1-702-714-7001 Extn: 9040

Earth & Environmental Sciences

Katie Wilson

environmentalsci@omicsonline.com

1-702-714-7001Extn: 9042

Engineering Journals

James Franklin

engineering@omicsonline.com

1-702-714-7001Extn: 9042

General Science and Health care Journals

Andrea Jason

generalsci_healthcare@omicsonline.com

1-702-714-7001Extn: 9043

Genetics and Molecular Biology Journals

Anna Melissa

genetics_molbio@omicsonline.com

1-702-714-7001 Extn: 9006

Immunology & Microbiology Journals

David Gorantl

immuno_microbio@omicsonline.com

1-702-714-7001Extn: 9014

Informatics Journals

Stephanie Skinner

omics@omicsonline.com

1-702-714-7001Extn: 9039

Material Sciences Journals

Rachle Green

materialsci@omicsonline.com

1-702-714-7001Extn: 9039

Mathematics and Physics Journals

Jim Willison

mathematics_physics@omicsonline.com

1-702-714-7001 Extn: 9042

Medical Journals

Nimmi Anna

medical@omicsonline.com

1-702-714-7001 Extn: 9038

Neuroscience & Psychology Journals

Nathan T

neuro_psychology@omicsonline.com

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

John Behannon

pharma@omicsonline.com

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

social_politicalsci@omicsonline.com

1-702-714-7001 Extn: 9042

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version