Human mtDNA haplogroups associated with high or reduced spermatozoa motility

Am J Hum Genet. 2000 Sep;67(3):682-96. doi: 10.1086/303040. Epub 2000 Aug 9.


A variety of mtDNA mutations responsible for human diseases have been associated with molecular defects in the OXPHOS system. It has been proposed that mtDNA genetic alterations can also be responsible for sperm dysfunction. In addition, it was suggested that if sperm dysfunction is the main phenotypic consequence, these mutations could be fixed as stable mtDNA variants, because mtDNA is maternally inherited. To test this possibility, we have performed an extensive analysis of the distribution of mtDNA haplogroups in white men having fertility problems. We have found that asthenozoospermia, but not oligozoospermia, is associated with mtDNA haplogroups in whites. Thus, haplogroups H and T are significantly more abundant in nonasthenozoospermic and asthenozoospermic populations, respectively, and show significant differences in their OXPHOS performance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Extrachromosomal Inheritance / genetics
  • Female
  • Gene Frequency / genetics
  • Haplotypes / genetics*
  • Heterozygote
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Male
  • Mitochondria / enzymology
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • Mutation / genetics
  • Oxidative Phosphorylation
  • Phenotype
  • Polymorphism, Genetic / genetics
  • RNA, Transfer / genetics
  • Sperm Motility / genetics*
  • Sperm Tail / physiology
  • Spermatozoa / enzymology
  • Spermatozoa / metabolism
  • Spermatozoa / pathology*
  • Spermatozoa / physiology
  • Whites / genetics


  • DNA, Mitochondrial
  • RNA, Transfer