Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity

Neurosci Lett. 2004 Aug 26;367(1):109-12. doi: 10.1016/j.neulet.2004.05.090.

Abstract

Mutations in the DJ-1 gene have been described in autosomal recessive Parkinson's disease patients (ARPD) of European ancestry and young onset (YOPD) Ashkenazi Jewish and Afro-Caribbean patients. There is little information on the prevalence of DJ-1 mutations amongst Asian PD populations. In this study, we examined for DJ-1 mutations in consecutive YOPD and ARPD in a multi-ethnic cohort (Chinese, Malays, and Indians) of PD patients in a tertiary referral center. Sequence analysis of all the exons and the exon and intron boundaries of the DJ-1 gene were carried out. We did not find any DJ-1 mutations in these patients. A number of intronic variants with genotype frequency ranging from 15 to 90% were detected. Unlike Parkin, pathogenic DJ-1 mutations appear to be restricted to certain populations and are unlikely to be of clinical importance in our Asian cohort.

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Cohort Studies
  • DNA Mutational Analysis / methods
  • Demography
  • Ethnicity
  • Female
  • Genotype
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Male
  • Middle Aged
  • Mutation*
  • Oncogene Proteins / genetics*
  • Parkinson Disease / ethnology*
  • Parkinson Disease / genetics*
  • Protein Deglycase DJ-1
  • RNA, Messenger / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction / methods

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • RNA, Messenger
  • PARK7 protein, human
  • Protein Deglycase DJ-1