Evaluating intra-genetic variants of DJ-1 among Parkinson's disease patients of eastern India

Neurol Res. 2011 May;33(4):349-53. doi: 10.1179/016164110X12767786356679.

Abstract

Objectives: Mutations in the DJ-1 gene have been described in autosomal recessive Parkinson's disease (PD) of European ancestry, Ashkenazi Jews, and Afro-Caribbean patients. Up to date, there is a lack of information about the prevalence of DJ-1 mutations among Indian PD patients.

Materials and methods: In this study, we examined for DJ-1 mutations in Eastern Indian PD patients. Exons (no. 2-7) and intron boundaries of the DJ-1 gene were screened in 300 individuals (PD, 150; controls, 150) by direct sequencing.

Results: A total of six intronic variants (IVS4+30T>G, IVS4+45G>A, IVS4+46G>A, IVS4-98G>A, IVS5+31G>A and IVS5+69G>C) were detected including one novel intronic change (IVS5+69G>C). Clinical features of the two patients exhibiting IVS5+69G>C (novel change) were compared and both were found to have early onset PD. IVS4+30T>G, IVS4+45G>A, and IVS4+46G>A were found to be present equally both in the patient and control cohorts. We did not find any DJ-1 mutations in our study.

Conclusion: Our results suggest that, unlike Parkin, pathogenic DJ-1 mutations seem to be restricted in certain populations and are unlikely to be of clinical importance in the eastern part of India.

Publication types

  • Case Reports
  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Cohort Studies
  • Female
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation / genetics*
  • Humans
  • India / epidemiology
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Middle Aged
  • Oncogene Proteins / genetics*
  • Parkinson Disease / epidemiology
  • Parkinson Disease / ethnology
  • Parkinson Disease / genetics*
  • Point Mutation*
  • Polymorphism, Genetic / physiology*
  • Protein Deglycase DJ-1
  • Ubiquitin-Protein Ligases / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • Oncogene Proteins
  • Ubiquitin-Protein Ligases
  • parkin protein
  • PARK7 protein, human
  • Protein Deglycase DJ-1