Reference : Insufficient Evidence for Pathogenicity of SNCA His50Gln (H50Q) in Parkinson's Disease
Scientific journals : Article
Life sciences : Genetics & genetic processes
Systems Biomedicine
http://hdl.handle.net/10993/43488
Insufficient Evidence for Pathogenicity of SNCA His50Gln (H50Q) in Parkinson's Disease
English
Krüger, Rejko[University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit >]
Blauwendraat, Cornelis[Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.]
[en] SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant. This information is important to provide counseling for His50Gln carriers and has implications for the interpretation of His50Gln α-synuclein functional investigations.
[University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit >]
