What are epigenetics?

In biology, epigenetics is the study of heritable phenotype changes that do not involve alterations in the DNA sequence.

The MTHFR aberrant promoter hypermethylation is associated with male infertility. Furthermore, this improper epigenetic phenomenon was observed in semen samples of infertile males belonging to couples with an history of recurrent spontaneous abortion. The MTHFR improper promoter hypermethylation may affect the two essential roles of DNA methylation in spermatogenetic cells, the global genome methylation process and the genomic imprinting of paternal genes. In addition, MTHFR gene promoter hypermethylation has also been associated with methylation loss at H19 imprinted gene in semen samples from infertile males.

Let’s look at the locations of the RHCE and the MTHFR genes:

Both are very close to each others on chromosome 1. It’s very possible they assort together.

Continue here…