Genetic Basis of Polycystic Ovary Syndrome. Understanding the Role of Mitochondria in the Pathophysiology of PCOS

      Аннотация: Polycystic ovary syndrome (PCOS) is among the most common endocrine disorders in the women of reproductive age. It is characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovaries (PCO). Present study has been carried out with genes involved in mitochondrial metabolism, mtDNA copy number and D-loop alterations to conclude their possible role in the development of the PCOS. The maintenance of mtDNA copy number is crucial in the preservation and homeostasis of normal cellular function.The D-loop is the major controlling site for mtDNA. We identified 158 distinct sequence variants were predominantly located in HVR-1 and HVR-2 regions of mitochondrial D-loop, in which three were novel mutations (T16046C, C16494G and G171del). Lower mtDNA copy number observed in PCOS cases carrying D310 and 189G alleles. In conclusion, alterations in the mtDNA D-loop, TFAM and PGC-1? genes are appear to have a role in the pathophysiology of PCOS.

Ключевые слова: polycystic ovary syndrome, mitochondria