Exclusion of PINK1 as candidate gene for the late-onset form of Parkinsons disease in two European populationsReport as inadecuate




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Journal of Negative Results in BioMedicine

, 4:10

First Online: 14 December 2005Received: 10 July 2005Accepted: 14 December 2005DOI: 10.1186-1477-5751-4-10

Cite this article as: Schlitter, A.M., Kurz, M., Larsen, J.P. et al. J Negat Results BioMed 2005 4: 10. doi:10.1186-1477-5751-4-10

Abstract

BackgroundParkinson-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 test

ResultsSeveral 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.

ConclusionSequence 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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Author: Anna Melissa Schlitter - Martin Kurz - Jan P Larsen - Dirk Woitalla - Thomas Mueller - Joerg T Epplen - Gabriele Dekomie

Source: https://link.springer.com/







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