Decreased expression of MRE11 and RAD50 in testes from humans with spermatogenic failure

J Assist Reprod Genet. 2020 Feb;37(2):331-340. doi: 10.1007/s10815-019-01686-5. Epub 2020 Jan 25.


Purpose: To assess testicular mRNA and protein expression levels of MRE11 and RAD50 in human azoospermia patients.

Methods: Patients diagnosed with maturation arrest at the spermatocyte stage (MA) and Sertoli cell-only syndrome (SCOS) were recruited through diagnostic testicular biopsy. Patients with normal spermatogenesis were studied as controls. In addition, knockdown of MRE11 and RAD50 was performed in GC-2spd(ts) cells to investigate their roles in cellular proliferation and apoptosis.

Results: mRNA and protein expression levels of MRE11 and RAD50 were measured using quantitative polymerase chain reaction, western blotting, and immunohistochemistry, respectively. Knockdown of both MRE11 and RAD50 utilized transfection with small interfering RNAs.

Conclusion: Our findings demonstrated altered expression levels of MRE11 and RAD50 in human testes with MA and SCOS, and showed that these alterations might be associated with impaired spermatogenesis. These results offer valuable new perspectives into the molecular mechanisms of male infertility.

Keywords: GC-2spd(ts) cells; MRE11; RAD50; Spermatogenic failure; Testes.

MeSH terms

  • Acid Anhydride Hydrolases / genetics*
  • Adult
  • Azoospermia / genetics*
  • Azoospermia / physiopathology
  • Cell Line
  • Cell Proliferation / genetics
  • DNA-Binding Proteins / genetics*
  • Gene Expression Regulation, Developmental / genetics
  • Gene Knockout Techniques
  • Humans
  • MRE11 Homologue Protein / genetics*
  • Male
  • RNA, Messenger / genetics
  • Sertoli Cell-Only Syndrome / genetics*
  • Sertoli Cell-Only Syndrome / pathology
  • Spermatogenesis / genetics
  • Testis / growth & development
  • Testis / metabolism
  • Testis / pathology


  • DNA-Binding Proteins
  • MRE11 protein, human
  • RNA, Messenger
  • MRE11 Homologue Protein
  • Acid Anhydride Hydrolases
  • Rad50 protein, human