Mitochondrial DNA Haplogroups and Three Independent Polymorphisms have no Association with the Risk of Parkinson's Disease in East Indian Population

Abstract

Background: Parkinson's disease (PD) is a multifaceted illness affecting ~ 0.3% of the world population. The genetic complexity of PD has not been, fully elucidated. Several studies suggest that mitochondrial DNA variants are associated with PD. Objective: Here, we have explored the possibility of genetic association between mitochondrial haplogroups as well as three independent SNPs with PD in a representative east Indian population. Methods and Material: The Asian mtDNA haplogroups: M, N, R, B, D, M7, and 3 other SNPs: 4336 T/C, 9055 G/A, 13708 G/A were genotyped in 100 sporadic PD patients and 100 matched controls via conventional PCR-RFLP-sequencing approach. Results: The distribution of mtDNA haplogroups, as well as 3 single polymorphisms, did not show any significant differences (P > 0.05) between patients and controls. Conclusion: This is the first of its kind of study from India that suggests no association of selected mitochondrial DNA variations with PD.

Gene Therapeutic Approaches for the Treatment of Mitochondrial Dysfunction in Parkinson’s Disease

“…These findings were supported by the later identification of additional mtDNA missense mutations present in nearly all mtDNA-encoded subunits of complex I [45]. Collectively, inherited mtDNA variants, referred to as mtDNA haplogroups, are associated with a lower or higher risk of developing PD [46][47][48]. Many of these reports need additional experimental validation.…”