No, it’s not text shorthand for a swear word… MTHFR stands for methylenetetrahydrofolate reductase. Wonderful! But what is it? It’s a gene, more specifically a genetic mutation. And I have it!
MTHFR gene is responsible for the methylation or processing of amino acids (component parts of proteins) within the body. Specifically, it is responsible for chemical reactions within the body involving B complex vitamins, folate (B-9) which convert amino acids into other amino acids for the purpose of making proteins and other important compounds.
Why does this matter? The mutation of this gene inhibits and impairs the proper methylation of B vitamins which can cause a build up of homocysteine in the blood stream. While science is unsure of the direct correlation between elevated homocysteine levels and other health issues, it has been linked to various illnesses and diseases such as depression, anxiety, diabetes, heart disease, deep vein thrombosis, ADHD, digestive disorders, schizophrenia, hypothyroidism, other impaired thyroid function, chronic fatigue, infertility, inability to carry pregnancies to full term, and numerous others.
Finding out if you have markers for the mutation is as simple as a blood test or a cheek swab genetic test. Mine was discovered through blood work showing elevated levels of homocysteine.

So what’s the fix? How do people with this genetic health impairment live holistically healthy lives?
1) Diet- a Paleolithic style diet full of veggies, berries, lean proteins and few carbohydrates helps to offset the nutritional deficiencies
2) Supplementation- taking a dietary supplement for methylfolate or B complex vitamins supplements the methylation process within the body so that the overabundance of homocysteine can be converted to methionine appropriately.
3) Be educated- the more you know about how your body works, the more you can do to ensure you’re fueling it to optimally function. Below are some of the better resources available on MTHFR. If you have any questions or care to share your experience, please feel free to do so in the comments below! 🙂