The impact of mitochondrial genetics on male infertility

Justin C. St John, Roobin P. Jokhi, Christopher L. R. Barratt

Research output: Contribution to journalReview articlepeer-review

96 Citations (Scopus)


Summary Human mitochondrial DNA (mtDNA) encodes 13 of the polypeptides associated with the process of oxidative phosphorylation (OXPHOS), the cells most important ATP generating pathway. Until recently, the effects of mtDNA rearrangements on male fertility have been largely ignored. However, it is becoming increasingly evident that both point mutations and large-scale deletions may have an impact on sperm motility and morphology. We discuss the implications of these rearrangements in the context of the clinical setting. We further discuss the possible consequences resulting from the transmission of sperm mtDNA deletions to the offspring. The role of nucleo-cytoplasmic interaction is investigated in the context of nuclear transcription and replication factors that regulate mtDNA transcription and replication.

Original languageEnglish
Pages (from-to)65-73
Number of pages9
JournalInternational Journal of Andrology
Issue number2
Publication statusPublished - Apr 2005


  • Animals
  • DNA, Mitochondrial/genetics
  • DNA-Binding Proteins/physiology
  • Gene Deletion
  • Humans
  • Infertility, Male/genetics
  • Male
  • Mitochondrial Myopathies/genetics
  • Mitochondrial Proteins/physiology
  • Nuclear Proteins/physiology
  • Oligomycins/pharmacology
  • Oxidative Phosphorylation/drug effects
  • Potassium Cyanide/pharmacology
  • Rotenone/pharmacology
  • Sperm Motility/drug effects
  • Testis/cytology
  • Transcription Factors/physiology


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