title: Genetics of mitochondrial dysfunction and infertility.
abstract: 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.
authors.affiliation: Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.|Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
authors.forename: L A M
authors.identifier: 0000-0001-8694-7710
authors.initials: LA
authors.lastname: Demain
authors.affiliation: Department of Endocrinology, University College London Hospitals, London, UK.|Institute for Women's Health, University College London Hospitals, London, UK.
authors.forename: G S
authors.initials: GS
authors.lastname: Conway
authors.affiliation: Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.|Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
authors.forename: W G
authors.initials: WG
authors.lastname: Newman
mesh_terms: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000473:pathology; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D009865:Oocytes / Q000378:metabolism / Q000473:pathology; D027724:Reproductive Techniques, Assisted; D013094:Spermatozoa / Q000378:metabolism / Q000473:pathology
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human
keywords: POLG; infertility; mitochondria; primary ovarian insufficiency