The analysis of mtDNA in Parkinson's disease patients and healthy individuals from Bashkortostan Republic
We evaluated the impact of the mitochondrial haplogroups and mutations on PD risk in 157 PD patients and 183 control subj ects of Tatar ethnic origin. It was found that haplogroup H of mtDNA was associated with higher PD risk (OR=2.58, 95%CI=1.59-4.20) and cluster UK - with lower PD risk (OR=0.38, 95%CI=0.22-0.64). Additionally, we confirmed the hypothesis that sublineages (U4+U5a1 +Uk+J), previously proposed to partially uncouple oxidative phosphorylation (OXPHOS), decrease the PD risk. Moreover, mtDNA sequencing revealed that PD patients with either haplogroup H or UK cluster of mtDNAs can harbor additional recent variants that might further modulate the PD risk.