BACKGROUND Mechanisms involved in male infertility are poorly understood. Modifications in the Methylenetetrahydrofolate reductase (MTHFR) gene such as mutations and promoter methylations have been shown to be associated with male infertility. In this study we compared the methylation status of the MTHFR promoter region in semen samples from males of infertile couples with ‘Recurrent Spontaneous Abortion’ (RSA) and male of infertile couples with no history of RSA (NRSA). METHODS DNA from sperm samples of 20 RSA males and 147 NRSA males as well as DNA from 20 fertile male (controls) were analyzed by Methylation Specific PCR amplification using primers that hybridize to the CpG island in the promoter region of MTHFR gene. RESULTS MTHFR promoter hypermethylation was detected in 75% of RSA males, in 54% of NRSA males (P = ) and in 20% of controls. In 78% of RSA males whole sperm population was affected by MTHFR promoter hypermethylation compared with 15% of NRSA males (p….) and 0% of controls. CONCLUSIONS These results indicate that MTHFR hypermethylation frequently occurs in semen samples of infertile couples. In RSA male the high frequency of MTHFR promoter methylation affecting whole sperm population suggests that epigenetic silencing of this gene could play a role in infertile couples with RSA.

MTHFR gene promoter hypermethylation correlates with semen samples of infertile couples with recurrence spontaneous abortion

ROTONDO, John Charles
Primo
;
BOSI, Silvia
Secondo
;
DE MATTEI, Monica;SELVATICI, Rita;PATELLA, Alfredo;MARCI, Roberto;TOGNON, Mauro
Penultimo
;
MARTINI, Fernanda
Ultimo
2012

Abstract

BACKGROUND Mechanisms involved in male infertility are poorly understood. Modifications in the Methylenetetrahydrofolate reductase (MTHFR) gene such as mutations and promoter methylations have been shown to be associated with male infertility. In this study we compared the methylation status of the MTHFR promoter region in semen samples from males of infertile couples with ‘Recurrent Spontaneous Abortion’ (RSA) and male of infertile couples with no history of RSA (NRSA). METHODS DNA from sperm samples of 20 RSA males and 147 NRSA males as well as DNA from 20 fertile male (controls) were analyzed by Methylation Specific PCR amplification using primers that hybridize to the CpG island in the promoter region of MTHFR gene. RESULTS MTHFR promoter hypermethylation was detected in 75% of RSA males, in 54% of NRSA males (P = ) and in 20% of controls. In 78% of RSA males whole sperm population was affected by MTHFR promoter hypermethylation compared with 15% of NRSA males (p….) and 0% of controls. CONCLUSIONS These results indicate that MTHFR hypermethylation frequently occurs in semen samples of infertile couples. In RSA male the high frequency of MTHFR promoter methylation affecting whole sperm population suggests that epigenetic silencing of this gene could play a role in infertile couples with RSA.
2012
Rotondo, John Charles; Bosi, Silvia; Bazzan, E; Di Domenico, M; DE MATTEI, Monica; Selvatici, Rita; Patella, Alfredo; Marci, Roberto; Tognon, Mauro; Martini, Fernanda
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/1689715
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