Mitochondrial dysfunction and oxidative stress are the major factors implicated in Parkinson’s disease (PD)
pathogenesis. The maintenance of healthy mitochondria is a very complex process coordinated bi-genomically. Here, we
review association studies on mitochondrial haplogroups and subhaplogroups, discussing the underlying molecular
mechanisms. We also focus on variation in the nuclear genes (NDUFV2, PGC-1alpha, HSPA9, LRPPRC, MTIF3,
POLG1, and TFAM encoding NADH dehydrogenase (ubiquinone) flavoprotein 2, peroxisome proliferator-activated receptor
gamma coactivator 1-alpha, mortalin, leucine-rich pentatricopeptide repeat containing protein, translation initiation
factor 3, mitochondrial DNA polymerase gamma, and mitochondrial transcription factor A, respectively) primarily linked
to regulation of mitochondrial functioning that recently have been associated with PD risk. Possible interactions between
mitochondrial and nuclear genetic variants and related proteins are discussed.
Association studies, Mitochondrial dysfunction, mtDNA haplogroups, Nuclear genes, Parkinson’s disease, Polymorphism.
Laboratory of Neurogenetics, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawinskiego 5, 02-106 Warszawa, Poland.