What does the MTHFR gene do?

This gene is really important for a number of important processes in the body. Different variations have been associated with poor mood, depression and poor health. However the good news is that it is possible to compensate for this genetic weakness with certain supplements.

MTHFR is the enzyme which triggers the conversion of one form of folate (from food) to the main circulating form of folate indirectly used as an essential piece to reduce the risk of heart disease.

Folate, is a water-soluble B vitamin, also known as vitamin B9. Folate is mainly found in dark green leaves such as spinach ad kale, and the synthetic form folic acid in supplements and fortified foods. In order to make the building block of protein and DNA, folate is needed.

Folate is also required to convert the amino acid homocysteine to methionine which are two important amino acids (building block s of protein). This  is an essential amino acid need for growth and tissue repair. If it is not converted the results is high levels of homocysteine. Excessive levels of homocysteine is linked to increased risk to the development of heart disease and stroke. This can occur when cells lack folate, as it will impair the conversion of homocysteine to methionine.

In order to prevent homocysteine build up, methylenetetrahydrofolate reductase (MTHFR) is a key enzyme for the metabolism of folate. It triggers the irreversible conversion of folate from one form, 5,10 – methylenetetrahydrofolate (5,10-MTHF) to another form 5-methyltetrahydrofolate (5-MTHF). This conversion is required to convert homocysteine to essential amino acid methionine.

The risk variant is the T allele.  If there is TT genotype, MTHFR enzyme activity is 36% less than compared to a CC result.  There will be higher levels of homocysteine and lower levels of folate and vitamin B2 (riboflavin).

The heterozygous CT result, individuals have 65% activity, compared to CC genotype.

The TT genotype is observed in 7% of Europeans and in 29% in Asians. The CT genotype is observed in 36% Europeans, 20% African Americans and 45% Asians.

Optimal levels of folate, choline, vitamin B6 and B12 are required.

Seek dietary advice from your registered dietitian or healthcare professional.

Other genes that work in concert;  MTHFR 1298, MTR, MTRR, COMT and APOE genotypes