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Investigating the relationship between BRCA1 and BRCA2 genes methylation profile and sperm DNA fragmentation in

Emel Kabartan1,2, Sezgin Gunes1,3, Mehmet Alper Arslan1,3

  • 1Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.

Andrologia
|May 17, 2019
PubMed

Insights

Sperm DNA fragmentation is higher in men with oligoasthenoteratozoospermia (OAT) and negatively impacts sperm quality. However, BRCA1 and BRCA2 gene promoter methylation was not linked to this DNA fragmentation in infertile men.

Area of Science:

  • Reproductive Biology
  • Epigenetics
  • Male Infertility

Background:

  • Oligoasthenoteratozoospermia (OAT) is a common cause of male infertility.
  • Sperm DNA fragmentation (sDF) is implicated in reduced fertility outcomes.
  • The role of DNA repair gene methylation in male infertility requires further investigation.

Purpose of the Study:

  • To examine the association between BRCA1 and BRCA2 promoter methylation and sDF in infertile men with OAT.
  • To assess the impact of sDF on semen parameters in this cohort.

Main Methods:

  • Participants included 73 infertile men with OAT and 20 normozoospermic controls.
  • Sperm DNA fragmentation (sDF) was assessed using the TUNEL assay.
  • BRCA1 and BRCA2 promoter methylation patterns were analyzed via methylation-specific PCR (MS-PCR).

Main Results:

  • Mean sDF ratio was 22.50% in the OAT group, significantly higher than controls (p < 0.001).
  • sDF negatively correlated with sperm motility, concentration, and morphology.
  • No statistically significant association was found between sDF and the methylation status of BRCA1 or BRCA2 gene promoters.

Conclusions:

  • Sperm DNA integrity is crucial and should be evaluated before assisted reproductive techniques.
  • While sDF is prevalent and detrimental in OAT, it is not associated with BRCA1/BRCA2 promoter methylation in this study.
  • Further research is needed to elucidate the relationship between epigenetic regulation of DNA repair genes and male infertility.
Keywords:
BRCA1BRCA2DNA methylationTUNEL assayinfertilitysperm DNA fragmentationspermatozoa

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