What is it about?

The human methylenetetrahydrofolate reductase (MTHFR) gene plays a crucial role in folate metabolism. Data regarding the influence of MTHFR gene polymorphisms on male fertility status are scarce and conflicting. We determined associations between 3 MTHFR gene polymorphisms (C677T, A1298C, and G1793A), serum folate, and total homocysteine (tHcy) levels, with male fertility status and semen parameters.

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Why is it important?

The MTHFR 677CT and 1298AC polymorphisms are associated with up to a 70% reduction in folate metabolism and hyperhomocysteinemia. Folate status is correlated with a variety of diseases, including neural tube defects, neurological and cognitive disorders, cancer, and cardiovascular disease. Folate plays a crucial role in the regulation of homocysteine homeostasis, in providing methyl groups to maintain transmethylation reactions, and in supplying 1 carbon units to DNA/RNA synthesis.


Although genetic factors play a role in the etiology of idiopathic male infertility, the biochemical abnormalities underlying the predisposition to infertility and the exact pathophysiology of impaired spermatogenesis remain to be elucidated. It has been shown that, a high level of homocysteine can induce the auto-oxidation that might cause DNA damage. In addition to the damage to germ line DNA, oxidative stress could also damage the cell membranes.

Dr Mohammad Reza Safarinejad
University of Medical Sceices

Read the Original

This page is a summary of: Relationship Between Genetic Polymorphisms of Methylenetetra hydrofolate Reductase (C677T, A1298C, and G1793A) as Risk Factors for Idiopathic Male Infertility, Reproductive Sciences, October 2010, SAGE Publications,
DOI: 10.1177/1933719110385135.
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