Add a few letters and you can likely guess what some call this gene. So, what is MTHFR? The MTHFR gene is the most well studied gene in regards to health. Methylenetetrahydrofolate reductase (MTHFR) is an enzyme produced by the MTHFR gene, hence, the name. Before we dive deeper into the significance of MTHFR, let’s first briefly discuss methylation.

Methylation is a key process that affects your stress response, inflammation, brain chemistry, energy production, immune response, detoxification, antioxidant production, cell repair, and genetic expression. For you chemists out there, it’s the controlled transfer of a methyl group (one carbon and three hydrogen atoms) to some component in the body, such as a protein, amino acid, enzyme, hormone, or a gene. This process occurs in every cell and tissue of the body and it’s happening right now. Methylation occurs trillions of times in every cell each minute. It’s critical; methylation is an essential metabolic function.

If methylation and MTHFR are not functioning appropriately, various health challenges arise – mood changes leading to anxiety and depression, accelerated aging due to an excessive energetic and toxic load that the body cannot manage, headaches, fatigue, brain fog, and weight gain. By methylating certain genes, you can turn off your genetic tendency to obesity and disease.

Specifically, MTHFR is related to one’s ability to activate folate from inactive folic acid to activated methylfolate; it also functions to break down an amino acid called homocysteine. This is important due to our need for folate for proper red blood cell formation and healthy cell growth and function. Elevated levels of homocysteine have been linked with multiple health conditions, including blood clots, heart disease, bone fractures, and Alzheimer’s disease.

Variants, also known as single nucleotide polymorphisms (SNPs), of the MTHFR gene have been associated with a multitude of health problems and diseases -- heart disease, stroke, hypertension, autoimmunity, chronic fatigue, digestive challenges, mood disorders, fibromyalgia, glaucoma, cancer, and more. There are currently two known types of MTHFR variants: C677T and A1298C. A variant in C677T is associated with elevated homocysteine levels. The A1298C variant has been linked with neurotransmitter balance, which influences mood regulation, depression, and addiction.

Please note, however, that having a variant for the MTHFR gene does not necessarily mean that you will indeed develop a related disease. It does provide information on how your body metabolizes folic acid, and hence, homocysteine.

What can you do to improve methylation & MTHFR symptoms?

• Be sure to get adequate folate and vitamin B12

  • Dietary sources of folate: green leafy vegetables (eat these each and every day!!! Seriously, EVERYDAY!), beans and legumes, such as lentils and chickpeas

  • Avoid folic acid and products that are fortified with folic acid

  • Dietary sources of vitamin B12: oysters, fish, poultry, eggs, and fortified nutritional yeast

  • If you have an MTHFR variant, you may need supplemental B vitamin support

    • Opt for methylated forms; for example:

      • Methylated vitamin B12 = methylcobalamin

      • Methylated vitamin B6 = pyridoxal-5-phosphate (P5P)

      • Methylated folate = methylfolate or 5-methyltetrahydrafolate (5-MTHF)

      • Methylated riboflavin (vitamin B2) = riboflavin 5-phosphate

• Manage your serum homocysteine level

  • Women: optimal = 7 umol/L; normal <10.4 umol/L

  • Men: optimal = 9 umol/L; normal <11.4 umol/L

• Drink filtered water – to avoid unwanted chemicals that MTHFR will need to manage

• Restore gut function

• Strive to reduce stress – as stress impairs MTHFR function

• Aim for deep, restorative sleep – to lessen the burden on MTHFR and methylation

• Incorporate natural detoxification support – ~85% of methylation occurs in your liver

• Get outside for fresh air and sunlight

• Limit exposure to blue light, particularly at night

 
Testing
If you’re unsure if you have an MTHFR variant and would like to find out, you have options. Quest/LabCorp do run this test, but be aware that you may pay quite a hefty price that insurance may or may not cover. If you’ve run 23andme or ancestry.com, even just for ancestry information, you can upload the raw data file to PureGenomics at no additional cost. Message me if you’re interested and I can register an account for you. If the above labs are not your style and you’re seeking a more private option, StrateGene and smartDNA are both fantastic (and happy to help you get a better price than you’ll find online).
 
Summary
Our nutrition, lifestyle habits, and environmental conditions can all influence gene expression. This is not doom and gloom news, but rather, it’s empowering. Genetics are not your destiny. Discovering if you have any variants for the MTHFR gene (as well as other genes) could help better guide an appropriate nutritional path personalized for you. This knowledge is powerful and I believe that it will only become more influential with time as gene variants have considerable implications for disease prevention.