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Mühlau, M.* ; Winkelmann, J. ; Rujescu, D.* ; Giegling, I.* ; Koutsouleris, N.* ; Gaser, C.* ; Arsic, M.* ; Weindl, A.* ; Reiser, M.* ; Meisenzahl, E.M.*

Variation within the Huntington's disease gene influences normal brain structure.

PLoS ONE 7:e29809 (2012)
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Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we test the hypothesis that variation within the IT15 gene on chromosome 4, whose expansion causes Huntington's disease, influences normal human brain structure. In 278 normal subjects, we determined CAG repeat length within the IT15 gene on chromosome 4 and analyzed high-resolution T1-weighted magnetic resonance images by the use of voxel-based morphometry. We found an increase of GM with increasing long CAG repeat and its interaction with age within the pallidum, which is involved in Huntington's disease. Our study demonstrates that a certain trinucleotide repeat influences normal brain structure in humans. This result may have important implications for the understanding of both the healthy and diseased brain.
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Publication type Article: Journal article
Document type Scientific Article
Keywords cag repeats; basal ganglia; segmentation; inference; mutation; bipolar; images; onset; mri; age
Language english
Publication Year 2012
HGF-reported in Year 2012
ISSN (print) / ISBN 1932-6203
Journal PLoS ONE
Quellenangaben Volume: 7, Issue: 1, Pages: , Article Number: e29809 Supplement: ,
Publisher Public Library of Science (PLoS)
Publishing Place Lawrence, Kan.
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
PubMed ID 22235343
DOI 10.1371/journal.pone.0029809
Scopus ID 84855318218
Erfassungsdatum 2012-02-07
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