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

Eur J Neurol. 2002 Jan;9(1):15-8. doi: 10.1046/j.1468-1331.2002.00333.x.


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.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alleles
  • Carrier Proteins / genetics*
  • Exons / genetics
  • Female
  • Gene Frequency
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Models, Molecular
  • Mutation / genetics
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • Polymorphism, Genetic / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction


  • Carrier Proteins
  • Nerve Tissue Proteins
  • SNCAIP protein, human