MTHFR Mutations

The methylene tetrahydrofolate reductase (MTHFR) gene codes an enzyme that converts folic acid (vitamin B9) into a form that can be used by the human body, and is also responsible for converting homocysteine into methionine. Mutations of the MTHFR gene can result in low blood levels of folate and high levels of homocysteine.

We all have two copies of the MTHFR genes, one from each of our parents. Having a single mutation of the MTHFR gene is rather common, but is typically medically irrelevant since one gene is still functioning normally. To have any detrimental effect, a mutation must be present on both copies of a persons MTHFR genes. Even in these cases, research has shown that high dosages of regular folic acid (like that found in the USANA CellSentials), can typically be used safely and with good success (Moll S). Most of the time, unless the mutation actually results in resistant high homocysteine levels, it is of little health or medical concern. Those with consistently elevated homocysteine levels may consider ordering an MTHFR genetic test.

Despite the growing discussion and concern about this genetic mutation, science is still in the early stages of research about MTHFR mutations and using folate (as 5-MTHF) over folic acid. USANA is also continuing to research this and it is entirely possible that we would have a methylated version of folate in the future. Until research progresses though, we will continue to use the form (folic acid) that is most supported by research. This includes decades of research showing the benefits of folic acid for preventing neural tube defects and offering other health benefits.

Moll S, Varga EA. Homocysteine and MTHFR Mutations. Circulation. 2015;132(1):e6-9.

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