A putative polymorphic Val44Ala variation in the synphilin-1 gene is undetectable in Japanese sporadic Parkinson's disease patients.

Abstract:

:Recently, a novel protein-interaction partner of alpha-synuclein, designated synphilin-1, is identified as a constituent of Lewy bodies (LB) in Parkinson's disease (PD) brains. To investigate an involvement of genetic variations of synphilin-1 in development of sporadic PD, a possible single nucleotide polymorphism (SNP) of T131C corresponding to a valine (Val) to alanine (Ala) substitution at codon 44 in exon 3 of the synphilin-1 gene was studied in a Japanese population of 55 patients with sporadic PD and 61 patients with non-PD by direct sequencing analysis. All 116 subjects showed a homozygosity of Val at codon 44 in the synphilin-1 gene, suggesting that this SNP is unlikely to affect genetic susceptibility to sporadic PD in the Japanese population.

journal_name

Eur J Neurol

authors

Satoh JI,Kuroda Y

doi

10.1046/j.1468-1331.2002.00333.x

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

15-8

issue

1

eissn

1351-5101

issn

1468-1331

pii

333

journal_volume

9

pub_type

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