title: The impact of mitochondrial genetics on male infertility.
abstract: 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.
authors.affiliation: The University of Birmingham, The Division of Medical Sciences, Birmingham B15 2TJ, UK. j.stjohn@bham.ac.uk
authors.forename: Justin C
authors.initials: JC
authors.lastname: St John
authors.forename: Roobin P
authors.initials: RP
authors.lastname: Jokhi
authors.forename: Christopher L R
authors.initials: CL
authors.lastname: Barratt
mesh_terms: D000818:Animals; D004272:DNA, Mitochondrial / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000502:physiology; D017353:Gene Deletion; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D017240:Mitochondrial Myopathies / Q000235:genetics; D024101:Mitochondrial Proteins / Q000502:physiology; D009687:Nuclear Proteins / Q000502:physiology; D009840:Oligomycins / Q000494:pharmacology; D010085:Oxidative Phosphorylation / Q000187:drug effects; D011190:Potassium Cyanide / Q000494:pharmacology; D012402:Rotenone / Q000494:pharmacology; D013081:Sperm Motility / Q000187:drug effects / Q000235:genetics; D013737:Testis / Q000166:cytology; D014157:Transcription Factors / Q000502:physiology
chemical_list: D004272:DNA, Mitochondrial; D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; D009687:Nuclear Proteins; D009840:Oligomycins; C499631:TFAM protein, human; D014157:Transcription Factors; C422562:mitochondrial transcription factor A; D012402:Rotenone; D011190:Potassium Cyanide