Mitochondrial DNA mutations in gynecological cancers

Mitochondria are metabolic organelles inherited only from the mother and possessing their own genome (mtDNA). The mt DNA is a circular, double-stranded molecule of 16.569 bp length containing 37 genes coding 13 polypeptides, 2 genes of rRNA (12S, 16S), and 22 genes of tRNA. All of these proteins are subunits of the oxidative phosphorylation system (OXPHO) localized at the mitochondrial inner membrane. Human mitochondrial dysfunctions have been linked to various metabolic diseases and cancer development. So far we have known several of the inherited and somatic mtDNA mutations predisposing to tumor development, occurring in both non-coding and coding regions. The genetic alternations in the mtDNA include point mutations, deletions, insertions, mtMSI (mitochondrial microsatellite instability). Most of mtDNA mutations in gynecological cancers are observed in the D-loop region. Studies suggest that both mtDNA polymorphism and classes of inherited haplogroups in the human population may be correlated with the risk of cancer development. Mitochondrial DNA mutation and polymorphism analysis may enable to identify individuals with high risk of cancer development, establish early detection or monitor the progression of cancer.