Male infertility associated with multiple mitochondrial DNA rearrangements

C R Acad Sci III. 1997 Aug;320(8):629-36. doi: 10.1016/s0764-4469(97)85696-x.


Male sterility results from a number of characterized exogenous or genetic dysfunctions preventing normal differentiation into mobile spermatozoa. This may now be overcome by intra cytoplasmic sperm injection (ICSI). This practice does not require mobile, or even mature spermatozoa for in vitro fecondation. However, a functional respiratory chain, partly encoded by the mitochondrial DNA (mtDNA), is required for the mobility of the spermatozoa. We report the case of an infertile patient who wished to procreate. ICSI was proposed but he displayed multiple mtDNA deletions of possible nuclear origin in the spermatozoa and in the deltoid muscle. Even though mtDNA is maternally inherited, the possibility of a nuclear-driven mutation affecting the integrity of the mtDNA should be taken into account when ICSI is to be performed. Together with recent genetic in vitro manipulations in mammals, our data point to the importance of studying the mtDNA structure in human spermatozoa, and the potential risks of these non-natural practices for procreation.

Publication types

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

MeSH terms

  • Adult
  • Blotting, Southern
  • Female
  • Fertilization in Vitro / methods
  • Gene Deletion
  • Gene Rearrangement*
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / therapy
  • Male
  • Microinjections
  • Muscle, Skeletal / chemistry
  • Polymerase Chain Reaction
  • Pregnancy
  • Sperm-Ovum Interactions
  • Spermatozoa / chemistry