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Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations

BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Recently, mutations in the PINK1 (PARK6) gene were shown to rarely cause autosomal-recessively transmitted, early-onset parkinsonism. In order to evaluate whether PINK1 contributes to the risk of common l...

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Autores principales: Schlitter, Anna Melissa, Kurz, Martin, Larsen, Jan P, Woitalla, Dirk, Mueller, Thomas, Epplen, Joerg T, Dekomien, Gabriele
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1325256/
https://www.ncbi.nlm.nih.gov/pubmed/16354302
http://dx.doi.org/10.1186/1477-5751-4-10
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author Schlitter, Anna Melissa
Kurz, Martin
Larsen, Jan P
Woitalla, Dirk
Mueller, Thomas
Epplen, Joerg T
Dekomien, Gabriele
author_facet Schlitter, Anna Melissa
Kurz, Martin
Larsen, Jan P
Woitalla, Dirk
Mueller, Thomas
Epplen, Joerg T
Dekomien, Gabriele
author_sort Schlitter, Anna Melissa
collection PubMed
description BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Recently, mutations in the PINK1 (PARK6) gene were shown to rarely cause autosomal-recessively transmitted, early-onset parkinsonism. In order to evaluate whether PINK1 contributes to the risk of common late-onset PD we analysed PINK1 sequence variations. A German (85 patients) and a Norwegian cohort (90 patients) suffering from late-onset PD were screened for mutations and single nucleotide polymorphisms (SNPs) in the PINK1 gene. Both cohorts consist of well-characterized patients presenting a positive family history of PD in ~17%. Investigations were performed by single strand conformation polymorphism (SSCP), denaturating high performance liquid chromatography (DHPLC) and sequencing analyses. SNP frequencies were compared by the χ(2 )test RESULTS: Several common SNPs were identified in our cohorts, including a recently identified coding variant (Q115L) in exon 1. Genotyping of the Q115L variation did not reveal significant frequency differences between patients and controls. Pathogenic mutations in the PINK1 gene were not identified, neither in the German nor in the Norwegian cohort. CONCLUSION: Sequence variation in the PINK1 gene appears to play a marginal quantitative role in the pathogenesis of the late-onset form of PD, in German and Norwegian cohorts, if at all.
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spelling pubmed-13252562006-01-07 Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations Schlitter, Anna Melissa Kurz, Martin Larsen, Jan P Woitalla, Dirk Mueller, Thomas Epplen, Joerg T Dekomien, Gabriele J Negat Results Biomed Research BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Recently, mutations in the PINK1 (PARK6) gene were shown to rarely cause autosomal-recessively transmitted, early-onset parkinsonism. In order to evaluate whether PINK1 contributes to the risk of common late-onset PD we analysed PINK1 sequence variations. A German (85 patients) and a Norwegian cohort (90 patients) suffering from late-onset PD were screened for mutations and single nucleotide polymorphisms (SNPs) in the PINK1 gene. Both cohorts consist of well-characterized patients presenting a positive family history of PD in ~17%. Investigations were performed by single strand conformation polymorphism (SSCP), denaturating high performance liquid chromatography (DHPLC) and sequencing analyses. SNP frequencies were compared by the χ(2 )test RESULTS: Several common SNPs were identified in our cohorts, including a recently identified coding variant (Q115L) in exon 1. Genotyping of the Q115L variation did not reveal significant frequency differences between patients and controls. Pathogenic mutations in the PINK1 gene were not identified, neither in the German nor in the Norwegian cohort. CONCLUSION: Sequence variation in the PINK1 gene appears to play a marginal quantitative role in the pathogenesis of the late-onset form of PD, in German and Norwegian cohorts, if at all. BioMed Central 2005-12-14 /pmc/articles/PMC1325256/ /pubmed/16354302 http://dx.doi.org/10.1186/1477-5751-4-10 Text en Copyright © 2005 Schlitter et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Schlitter, Anna Melissa
Kurz, Martin
Larsen, Jan P
Woitalla, Dirk
Mueller, Thomas
Epplen, Joerg T
Dekomien, Gabriele
Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations
title Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations
title_full Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations
title_fullStr Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations
title_full_unstemmed Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations
title_short Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations
title_sort exclusion of pink1 as candidate gene for the late-onset form of parkinson's disease in two european populations
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1325256/
https://www.ncbi.nlm.nih.gov/pubmed/16354302
http://dx.doi.org/10.1186/1477-5751-4-10
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