| Literature DB >> 24534762 |
Chikara Yamashita1, Hiroyuki Tomiyama2, Manabu Funayama3, Saeko Inamizu4, Maya Ando1, Yuanzhe Li5, Hiroyo Yoshino5, Takehisa Araki4, Tadashi Ichikawa6, Yoshiro Ehara7, Kinya Ishikawa8, Hidehiro Mizusawa8, Nobutaka Hattori9.
Abstract
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.Entities:
Keywords: Ataxin-2; Intermediate length; Parkinson's disease; Polyglutamine; Trinucleotide repeat diseases
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Year: 2014 PMID： 24534762 DOI： 10.1016/j.neurobiolaging.2014.01.022
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673