Reference : Mutation analysis and association studies of the UCHL1 gene in German Parkinson's dis...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/10993/17114
Mutation analysis and association studies of the UCHL1 gene in German Parkinson's disease patients.
English
Wintermeyer, P. [> >]
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Kuhn, W. [> >]
Muller, T. [> >]
Woitalla, D. [> >]
Berg, D. [> >]
Leroy, E. [> >]
Polymeropoulos, M. [> >]
Berger, K. [> >]
Przuntek, H. [> >]
Schols, L. [> >]
Epplen, J. T. [> >]
Riess, O. [> >]
2000
Neuroreport
11
10
2079-82
Yes (verified by ORBilu)
International
0959-4965
ENGLAND
[en] Aged ; DNA Mutational Analysis ; DNA Primers ; European Continental Ancestry Group ; Female ; Genes, Dominant ; Genotype ; Germany ; Heterozygote Detection ; Humans ; Male ; Parkinson Disease/enzymology/genetics ; Polymorphism, Genetic ; Reference Values ; Restriction Mapping ; Thiolester Hydrolases/genetics ; Ubiquitin Thiolesterase
[en] Recently, an Ile93Met substitution has been identified in the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene in a single German PD family with autosomal dominant inheritance. To determine whether mutations in the UCHL1 gene are causative for Parkinson's disease (PD) a detailed mutation analysis was performed in a large sample of German sporadic and familial PD patients. We found no disease-causing mutation in the coding region of the UCHL1 gene. Direct sequencing revealed six intronic polymorphisms in the UCHL1 gene. Analysis of an S18Y polymorphism in exon 3 of the UCHL1 gene in sporadic PD patients and controls showed carriers of allele 2 (tyrosine) significantly less frequent in patients with a reduced risk of 0.57 (CI = 0.36-0.88; p = 0.012, p(c) = 0.047, chi2 = 6.31). Our study shows that sequence variations in the coding region of UCHL1 are a rare event. A protective effect of a certain UCHL1 variant in the pathogenesis of sporadic PD is suggested, underlining the relevance of UCHL1 in neurodegeneration.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)
http://hdl.handle.net/10993/17114

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