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Title

METHYLATION PATTERN IN PROMOTER REGION OF MTHFR IS MODIFIED IN TESTICULAR TISSUE OF MALES WITH NON OBSTRUCTIVE INFERTILITY

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PCR 

Abstract

 Introduction: Methylene-tetrahydro-folate (MTHFR) plays important roles in DNA synthesis, folate metabolism and reMETHYLATION reactions. Low folate coupled with MTHFR expression has the potential to be linked with male INFERTILITY since it plays an essential role in spermatogenesis due to exponentionally higher activity in adult testis than other organs. However METHYLATION of promoter regions of different gens has been correlated to lack of expression and pathogenicity. MTHFR expression has been correlated to male INFERTILITY with oligo azoospermia. However the mechanism is not elucidated yet.Materials and Methods: This case-control study included 32 Iranian azoospermic patients without obstruction and 5 infertile men due to obstructive mechanism. Testis tissue samples were obtained during testis biopsy. METHYLATION status was evaluated by METHYLATION-specific PCR on a CpG island overlapping promoter region of MTHFR.Results: The frequency of CpG METHYLATION in promoter regions of nonobstructive infertile men was 53.12% while no METHYLATION was detected in obstructive infertile specimen.Conclusion: Our Results indicate that epigenetic aberrations of METHYLATION status in CpG islands are correlated to male infertily. This is the first research on MTHFR 5’ flanking regions aberrant METHYLATION and it’s role in INFERTILITY. Furthur studies to link this metylation pattern with MTHFR expression are essential to establish pathogenesis of changed METHYLATION patterns in these patients.

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