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

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.