Document Detail

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease.
MedLine Citation:
PMID:  16905325     Owner:  NLM     Status:  MEDLINE    
Huntington's disease (HD) is a late-onset, autosomal dominant neurodegenerative disease caused by a CAG trinucleotide expansion. The number of repeats on the HD chromosome explains most of the variability in age of onset, but genetic factors other than the HD gene are responsible for part of the residual variance. Based on the role played by the brain derived neurotrophic factor (BDNF) in neurodysfunction and neurodegeneration in HD, we searched for novel polymorphisms in the neuron restrictive silencer element located in the BDNF promoter. Then, the effect of the Val66Met variant in determining age of onset was tested in a large sample of HD carriers by using a multivariate regression approach. The CAG repeat number accounted for 62% of the variance. After correction for the predominant effect of the CAG expansion, no multiple regression model provided evidence of association between the Val66Met genotype and variation in age-at-onset. Additional studies are warranted to further investigate BDNF as genetic modifier of the HD phenotype.
Emilio Di Maria; Antonella Marasco; Marzia Tartari; Paola Ciotti; Giovanni Abbruzzese; Giuseppe Novelli; Emilia Bellone; Elena Cattaneo; Paola Mandich
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-08-14
Journal Detail:
Title:  Neurobiology of disease     Volume:  24     ISSN:  0969-9961     ISO Abbreviation:  Neurobiol. Dis.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-23     Completed Date:  2007-01-23     Revised Date:  2012-02-23    
Medline Journal Info:
Nlm Unique ID:  9500169     Medline TA:  Neurobiol Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  274-9     Citation Subset:  IM    
Department of Neuroscience, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, and Medical Genetics Unit, San Martino Hospital, Genova, Italy.
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MeSH Terms
Age of Onset
Amino Acid Substitution / genetics
Brain / metabolism,  pathology,  physiopathology
Brain-Derived Neurotrophic Factor / chemistry,  genetics*,  metabolism
DNA Mutational Analysis
Genetic Predisposition to Disease / genetics*
Genetic Testing
Genetic Variation / genetics*
Huntington Disease / epidemiology*,  genetics*,  physiopathology
Methionine / genetics
Middle Aged
Polymorphism, Genetic / genetics*
Promoter Regions, Genetic / genetics
Silencer Elements, Transcriptional / genetics
Trinucleotide Repeat Expansion / genetics
Valine / genetics
Grant Support
Reg. No./Substance:
0/Brain-Derived Neurotrophic Factor; 63-68-3/Methionine; 7004-03-7/Valine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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