alpha-Synuclein promoter confers susceptibility to Parkinson's disease

Ann Neurol. 2004 Oct;56(4):591-5. doi: 10.1002/ana.20268.

Abstract

Familial Parkinson's disease (PD) has been linked to missense and genomic multiplication mutations of the alpha-synuclein gene (SNCA). Genetic variability within SNCA has been implicated in idiopathic PD in many populations. We now confirm and extend these findings, within a Belgian sample, using a high-resolution map of genetic markers across the SNCA locus. Our study implicates the SNCA promoter in susceptibility to PD, and more specifically defines a minimum promoter haplotype, spanning approximately 15.3kb of sequence, which is overrepresented in patients. Our findings represent a biomarker for PD and may have implications for patient diagnosis, longitudinal evaluation, and treatment.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Case-Control Studies
  • Disease Susceptibility*
  • Exons
  • Female
  • Genetic Markers
  • Genome
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • Promoter Regions, Genetic*
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Synucleins
  • alpha-Synuclein

Substances

  • Genetic Markers
  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein