Increased sperm mitochondrial DNA content in male infertility

Hum Reprod. 2003 Mar;18(3):550-6. doi: 10.1093/humrep/deg096.

Abstract

Background: There is increasing evidence that mitochondrial DNA (mtDNA) anomalies in sperm may lead to infertility. Point mutations, deletions and the presence of a specific mtDNA haplogroup have been associated with poor sperm quality, but little attention has been paid to the role of mtDNA content.

Methods: Using density gradient separation and swim-up methods, we selected motile sperm from 32 normal and 35 abnormal sperm samples. The mtDNA/beta-globin gene ratio was determined by real-time quantitative PCR.

Results: The average mtDNA/beta-globin ratio of sperm collected from 100% density layers was 1.4 for normal sperm, 6.1 for sperm samples presenting at least one abnormal criterion [among the three criteria established by World Health Organization (1999), i.e. sperm count, motility and morphology], and 9.1 for sperm samples presenting two or more of these abnormal criteria. These differences are very highly significant (P < 0.0001). The mtDNA numbers were also much greater in sperm collected from the 40% density gradient layers (mean: 17.1, P < 0.001), known to contain the most abnormal sperm of the sperm samples, than in those collected from the 100% layers known to contain sperm with the best fertilizing ability.

Conclusion: Our results showed significant mtDNA amplification in sperm collected from abnormal sperm samples.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computer Systems
  • DNA, Mitochondrial / metabolism*
  • DNA, Mitochondrial / physiology
  • Globins / metabolism
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / metabolism
  • Infertility, Male / pathology
  • Infertility, Male / physiopathology
  • Male
  • Polymerase Chain Reaction
  • Sperm Count
  • Sperm Motility
  • Spermatozoa / abnormalities
  • Spermatozoa / cytology
  • Spermatozoa / metabolism*

Substances

  • DNA, Mitochondrial
  • Globins