O-40: MTHFR Promoter Hypermethylationin Testicular Biopsies of patients with Non-Azoospermia: the Role of Epigeneticsin Male Infertility

Background: MTHFR promoter hypermethylation in testicular biopsies of patients with non-obstructive azoospermia: the role of epigenetics in male infertility. Materials and Methods: DNA from peripheral blood (PB) samples of 50 patients with NOA and 50 fertile men (controls) as well as DNA from testicular biopsies of 32 patients with NOA and five patients with obstructive azoospemia, but normal spermatogenesis, were analyzed by Methylation Specific PCR amplification using primers that hybridize to the CpG island in the promoter region of MTHFR. Results: In PB, no differences in the methylation profile of the promoter region of MTHFR were observed between patients and controls. In testis biopsies, hypermethylation was detected in 53% of the patients withNOA compared with 0% of patients with obstructive azoospermia (p = 0.03). Conclusion: These results indicate that hyper-methylation in testis DNA from NOA patients is specific and not due a general methylation defect, and suggest that epigenetic silencing of MTHFR could play a role in azoospermic infertility.