Journal
NEUROBIOLOGY OF AGING
Volume 35, Issue 7, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2014.01.022
Keywords
Trinucleotide repeat diseases; Parkinson's disease; Polyglutamine; Intermediate length; Ataxin-2
Categories
Funding
- Strategic Research Foundation [80218510, 21591098]
- Young Scientists [22790829, 23791003]
- Japanese Ministry of Education, Culture, Sports, and Science and Technology [23111003, 23129506]
- Research Committee of CNS Degenerative Diseases and Perry Syndrome [22140901]
- Health and Labour Sciences Research Grants from the Japanese Ministry of Health, Labour and Welfare [20261501, 22140501]
- Japan Science and Technology Agency
- Grants-in-Aid for Scientific Research [25461291, 25860725, 23791003, 23129506, 22790829] Funding Source: KAKEN
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We evaluated the contributions of various polyglutamine (polyQ) disease genes to Parkinson's disease (PD). We compared the distributions of polyQ repeat lengths in 8 common genes (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1, and HTT) in 299 unrelated patients with autosomal dominant PD (ADPD) and 329 normal controls. We also analyzed the possibility of genetic interactions between ATXN1 and ATXN2, ATXN2 and ATXN3, and ATXN2 and CACNA1A. Intermediate-length polyQ expansions (> 24 Qs) of ATXN2 were found in 7 ADPD patients and no controls (7/299 = 2.34% and 0/329 = 0%, respectively; p = 0.0053 < 0.05/8 after Bonferroni correction). These patients showed typical L-DOPA-responsive PD phenotypes. Conversely, no significant differences in polyQ repeat lengths were found between the ADPD patients and the controls for the other 7 genes. Our results may support the hypothesis that ATXN2 polyQ expansion is a specific predisposing factor for multiple neurodegenerative diseases. (C) 2014 Elsevier Inc. All rights reserved.
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