MtDNA polymorphism and its role in adaptation to environmental conditions and predisposition

Objective: analysis of the role of population polymorphism of human mtDNA in the formation of hereditary adaptation to extreme environmental conditions and predisposition to diseases. Materials and methods. Genotyping of mitochondrial DNA (mtDNA) is carried out by using various methods, including modern high-performance sequencing technologies. Phylogeographic studies make it possible to reconstruct the family tree of human mtDNA and assess the prevalence of characteristic haplotypes in various populations. Studies of the associations of mtDNA polymorphism with diseases are based on a comparison of the prevalence of haplotypes and individual mtDNA variants in patient groups with ethnically relevant control samples. Results. The results of studies of mtDNA polymorphism in human populations from different geographical regions indicate that some haplotypes and individual variants of mtDNA can play a role in adaptation of the population to high altitude conditions. Studies of the associations of mtDNA polymorphism with multifactorial diseases have revealed haplogroups and individual mtDNA polymorphisms that affect the risk of developing diseases and their complications depending on the population. Cunclusion. The study of mitochondrial genome polymorphism is important for the purposes of population, evolutionary and medical genetics. In addition, these studies are of interest to specialists in the history of ethnic groups and cultures and have an interdisciplinary importance. The study was supported by RFBR grant No. 19-04-01322-A.