Abstract
5, 10-methylene tetrahydrofolate reductase (MTHFR) is an important enzyme in folate and homocysteine metabolism, and plays an important role in regulating folate levels, DNA synthesis and methylation in cells. Defects in the MTHFR gene can lead to spermatogenesis disorders and male sterility. Polymorphic loci of MTHFR gene and semen quality of 1,490 boars were examined to explore their relationship. Results showed there were 13 polymorphic loci on MTHFR gene exon in boars with different semen quality, among which loci 1 and 2 were missense mutations. For Duroc boars, although there were synonymous mutations at loci 3–5 and 11, the mutation had no effect on semen quality (P > 0.05). In addition to loci 13, loci 1–12 of the MTHFR gene had mutations, but it had no effect on semen quality in Yorkshire boars (P > 0.05). Interestingly, for Landrace boars, double mutation of MTHFR gene at 1–2, 6–10, and 12 loci (CC → TT) led to decreased sperm motility and increased abnormal sperm rate (P < 0.05). Further analysis showed seminal plasma MDA and hydrogen peroxide levels were increased in Landrace boars with the mutation of MTHFR gene at loci 1–2, 6–10 and 12 (P < 0.05). In conclusion, double mutation of MTHFR gene at 1–2, 6–10, and 12 loci decreased semen quality and increased oxidative stress in sperm, and these mutant loci may be potential biomarkers for predicting the semen quality of Landrace boars.
Association between methylene tetrahydrofolate reductase and glutathione S-transferase M1 gene polymorphisms and chronic myeloid leukemia in a Brazilian population
