Analysis of mitochondrial DNA sequence variants in patients with polycystic ovary syndrome

Arch Gynecol Obstet. 2012 Sep;286(3):653-9. doi: 10.1007/s00404-012-2358-7. Epub 2012 May 1.


Purpose: To understand the role of mitochondrial DNA (mtDNA) mutations in patients with polycystic ovary syndrome (PCOS).

Methods: A total of 57 women with PCOS and 38 controls were recruited in this study, mutational analysis of mitochondrial genome was performed using polymerase chain reaction and under a direct sequence analysis.

Results: Sequence characterization of mitochondrial genome showed a distinct set of polymorphisms mainly focused on oxidative phosphorylation (OXPHOS) complex, in addition, six variants in mitochondrial tRNA genes, including tRNA(Gln), tRNA(Cys), tRNA(Asp), tRNA(Lys), tRNA(Arg) and tRNA(Glu) were also identified in PCOS patients. Interestingly, these variants occurred at highly conserved nucleotides of corresponding tRNAs, which are important for tRNA stability level and biochemical function.

Conclusions: Mutations in mtDNA, especially the OXPHOS complex and tRNAs, may be associated with PCOS patients, thus, our results shed new insight into the pathogenesis of PCOS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • DNA Mutational Analysis
  • DNA, Mitochondrial / chemistry*
  • Female
  • Genetic Variation
  • Genome, Mitochondrial
  • Genotyping Techniques
  • Humans
  • Polycystic Ovary Syndrome / genetics*
  • Polymerase Chain Reaction
  • Young Adult


  • DNA, Mitochondrial