A novel polymorphic triplet repeat in intron five of the α-synuclein gene: No evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish

Owen A. Ross, Nuri H. Awayn, Deborah McWhinney, Lynn D. Maxwell, Omar M.A. El-Agnaf, Yvonne A. Barnett, I. Maeve Rea, Derek Middleton, Andrew Wallace, J. Mark Gibson, Martin D. Curran

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

The recent discovery of two mutations associated with autosomal dominant Parkinson's disease (PD) has led to the hypothesis that the α-synuclein gene plays a role in the pathogenesis of PD. Here we report a novel triplet CAA repeat within the unusually large intron 5 sequence of the α-synuclein gene. Microsatellite analysis revealed a high degree of polymorphism within the Irish population with seven alleles detected, ranging from eight to 17 CAA repeats. Analysis of the allele/genotype frequency differences observed between an Irish idiopathic PD cohort (n=98) and a healthy aged control group (n=92) revealed no strong association with either group. All PD subjects displaying homozygous profiles were examined for expansion of the trinucleotide repeat, but no expansion was observed. These results would suggest that polymorphism of the α-synuclein gene may not play as significant a role in the pathogenesis of idiopathic PD as previously hypothesised.

Original languageEnglish (US)
Pages (from-to)1621-1625
Number of pages5
JournalNeuroReport
Volume13
Issue number13
DOIs
StatePublished - Sep 16 2002

Keywords

  • CAA trinucleotide repeat
  • Parkinson's Disease
  • α-Synuclein

ASJC Scopus subject areas

  • Neuroscience(all)

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    Ross, O. A., Awayn, N. H., McWhinney, D., Maxwell, L. D., El-Agnaf, O. M. A., Barnett, Y. A., Maeve Rea, I., Middleton, D., Wallace, A., Gibson, J. M., & Curran, M. D. (2002). A novel polymorphic triplet repeat in intron five of the α-synuclein gene: No evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish. NeuroReport, 13(13), 1621-1625. https://doi.org/10.1097/00001756-200209160-00010