MTHFR & genetic polymorphisms in male infertility

By Setareh Tais, ND

The folate metabolic pathway plays an important role in spermatogenesis since folate is involved in DNA synthesis and methylation in rapidly dividing male germ cells; in addition folate deficiency is associated with elevated levels of homocysteine which can inhibit the synthesis of nitric oxide, a necessary cellular messenger for sperm capacitation and completion of the acrosomal reaction. Recently, a study was conducted to assess MTHFR status among infertile men. In this study, 150 infertile Jordanian men were compared to 150 fertile age-matched controls, showing a positive association between the homozygous MTHFR 677TT genotype and male infertility. Similar reports have been noted in studies of Indian, Korean, Italian, Korean, Turkish, and Brazilian populations. However, these observations have not been seen in studies of Dutch and French men.

Reference:
Mfady DS, Sadiq MF, Khabour OF, Fararjeh AS, Abu-Awad a, Khader Y. Associations of variants in MTHFR and MTRR genes with male infertility in the Jordianian population. Gene 2014. 536 (1): 40 – 44.

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