Mitochondrial DNA copy number in peripheral blood in polycystic ovary syndrome

Metabolism. 2011 Dec;60(12):1677-82. doi: 10.1016/j.metabol.2011.04.010. Epub 2011 Jun 14.


Polycystic ovary syndrome (PCOS) is associated with insulin resistance and various metabolic diseases; and recently, elevated oxidative stress has been detected in PCOS. Mitochondria are highly susceptible to oxidative damage; and disordered mitochondrial function at the cellular level can impact whole-body metabolic homeostasis, leading to the hypothesis that abnormalities in markers of mitochondrial metabolism are related to PCOS. We compared mitochondrial DNA (mtDNA) copy number in women with and without PCOS and investigated the independent relationship between mtDNA copy number and PCOS after adjustment for metabolic parameters. Fifty women with PCOS and 60 age- and body mass index-matched healthy women were studied. Mitochondrial DNA copy numbers as well as metabolic parameters and indices of insulin resistance were assessed. Mitochondrial DNA copy numbers were significantly lower in women with PCOS (P < .01). In the PCOS group, mtDNA copy number was negatively correlated with indices of insulin resistance, waist circumference, and triglyceride levels and positively correlated with sex hormone-binding globulin levels. In multiple logistic regression, the corresponding odds ratios (95% confidence interval) for PCOS by log-transformed mtDNA copy number and homeostasis model assessment of insulin resistance were 0.15 (0.04-0.56) and 4.26 (1.43-12.68), respectively, after adjustment for age, body mass index, and other metabolic factors. We report decreased mtDNA copy numbers in PCOS patients in relation to controls independently of insulin resistance or other metabolic factors. The pathophysiological and clinical significance of this finding requires further investigation.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biomarkers / blood
  • Body Mass Index
  • Case-Control Studies
  • DNA Copy Number Variations*
  • DNA, Mitochondrial / blood*
  • Female
  • Homeostasis
  • Humans
  • Insulin Resistance*
  • Logistic Models
  • Multivariate Analysis
  • Odds Ratio
  • Oxidative Stress*
  • Polycystic Ovary Syndrome / blood*
  • Polycystic Ovary Syndrome / genetics
  • Polycystic Ovary Syndrome / metabolism
  • Sex Hormone-Binding Globulin / metabolism
  • Triglycerides / blood
  • Waist Circumference


  • Biomarkers
  • DNA, Mitochondrial
  • Sex Hormone-Binding Globulin
  • Triglycerides