Mitochondrial Dysfunction in Polycystic Ovary Syndrome

Polycystic ovary syndrome (PCOS) is a multi-causal condition. Among the genetic causes, variations in the mitochondrial DNA (mtDNA) are increasingly recognised as causative. PCOS not only occurs in known syndromic mitochondrial disorders due to pathogenic variants in the mtDNA but also in non-syndromic mitochondrial disorders. Additionally, mtDNA variants not causing a multi-system mitochondrial disorder but exclusively PCOS have been reported. Among the syndromic mitochondrial disorders, PCOS has been described in myoclonic epilepsy with ragged-red fibre (MERRF) syndrome. Among the non-syndromic mitochondrial disorders, PCOS has been described in association with insulin resistance. Several other studies suggest that mtDNA point mutations or mtDNA deletions can be associated with PCOS without manifesting in organs other than the ovaries. Evidence from animal studies suggests that function, morphology, and biogenesis of mitochondria in ovarian tissue are generally impaired in PCOS patients. In conclusion, there is increasing evidence that mtDNA variants play a pathophysiological role in the development of PCOS. Further studies are needed to establish the causal link between mtDNA variants and PCOS.

Automated summary

Polycystic ovary syndrome (PCOS) is a multi-causal condition. Variations in mitochondrial DNA (mtDNA) are increasingly recognized as one of the genetic causes of PCOS. PCOS is associated not only with known syndromic mitochondrial disorders but also with non-syndromic mitochondrial disorders, and even with mtDNA variants exclusively causing PCOS. Further studies are needed to establish the causal link between mtDNA variants and PCOS.