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 coding13 polypeptides, 2 genes of rRNA (12S, 16S), and 22 genes of tRNA. All of these proteins are subunits of the oxidativephosphorylation system (OXPHO) localized at the mitochondrial inner membrane. Human mitochondrialdysfunctions have been linked to various metabolic diseases and cancer development. So far we have knownseveral of the inherited and somatic mtDNA mutations predisposing to tumor development, occurring in bothnon-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 cancersare observed in the D-loop region. Studies suggest that both mtDNA polymorphism and classes of inherited haplogroupsin the human population may be correlated with the risk of cancer development. Mitochondrial DNAmutation and polymorphism analysis may enable to identify individuals with high risk of cancer development,establish early detection or monitor the progression of cancer.