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Endocrine Abstracts (2017) 49 EP1176 | DOI: 10.1530/endoabs.49.EP1176

1‘C.I. Parhon’ National Institute of Endocrinology, Bucharest, Romania; 2‘Stefan S. Nicolau’ Institute of Virology, Bucharest, Romania; 3‘Carol Davila’ University of Medicine and Farmacy, Bucharest, Romania.


: A large number of studies are now focused on the causes of male infertility. Among these are epigenetic modifications, which are important contributors to reproductive pathology in the male by providing dynamic changes of the phenotype according to the environmental and metabolic factors. The most known epigenetic modification is DNA methylation and alterations in this pattern in several genes could induce male infertility. Alterations in DNA methylation patterns in several genes may lead to abnormal male sexual development and infertility. MTHFR is an enzyme involved in the folate pathway and in de novo nucleotide biosynthesis but also a good example for gene-environment interaction in phenotype development. This study investigates the promoter methylation status of MTHFR in infertile men from by quantitative methylation-specific PCR in order to investigate possible correlations with sperm abnormalities. Our study includes patients (n=27, median age 31 years, range 26–41 years) recruited from men seeking advice for couple infertility and control group (n=11, median age 30.5 years, range 24–37 years). DNA was isolated from sperm samples and promoter methylation of MTHFR was quantified in qMS-PCR using bisulphite treated DNA samples (EpiTect Bisulfite Kit – Qiagen). Were detected significant correlations that indicate a tendency towards promoter hypermethylation in spermatozoa with low motility (P=0.0130, r2=0.3886), poor morphology (P=0.0138, r2=0.3833) and with low sperm count (P=0.0092, r2=0.4184). Our data suggest that the methylation patterns of the promoter of MTHFR is linked with sperm anomalies of motility, morphology and sperm count, which could lead to male infertility.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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