Genetics of mitochondrial dysfunction and infertility

Clin Genet. 2017 Feb;91(2):199-207. doi: 10.1111/cge.12896. Epub 2016 Dec 9.


Increasingly, mitochondria are being recognized as having an important role in fertility. Indeed in assisted reproductive technologies mitochondrial function is a key indicator of sperm and oocyte quality. Here, we review the literature regarding mitochondrial genetics and infertility. In many multisystem disorders caused by mitochondrial dysfunction death occurs prior to sexual maturity, or the clinical features are so severe that infertility may be underreported. Interestingly, many of the genes linked to mitochondrial dysfunction and infertility have roles in the maintenance of mitochondrial DNA or in mitochondrial translation. Studies on populations with genetically uncharacterized infertility have highlighted an association with mitochondrial DNA deletions, whether this is causative or indicative of poor functioning mitochondria requires further examination. Studies on the impact of mitochondrial DNA variants present conflicting data but highlight POLG as a particularly interesting candidate gene for both male and female infertility.

Keywords: POLG; infertility; mitochondria; primary ovarian insufficiency.

Publication types

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

MeSH terms

  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Female
  • Humans
  • Infertility, Female / genetics*
  • Infertility, Female / pathology
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Male
  • Mitochondria / genetics*
  • Oocytes / metabolism
  • Oocytes / pathology
  • Reproductive Techniques, Assisted
  • Spermatozoa / metabolism
  • Spermatozoa / pathology


  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human