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Yael AcuWellness

Balancing Mind Body & Soul

Understanding the MTHFR Gene Variant When Planning for a Baby

If you’ve planned for a baby, you’ve probably heard about the MTHFR gene variant. Women with an MTHFR gene variant may be at a higher risk for miscarriage, preeclampsia, and having a baby with birth defects. 

Many moms-to-be learn about the importance of folic acid, a form of vitamin B9, among other important vitamins and minerals, in supporting the growth and development of their baby. Folate is the natural form of vitamin B9, water-soluble and naturally found in many foods, such as dark leafy greens. It is also added to foods and sold as a supplement in the form of folic acid. 

Having a sufficient amount of vitamin B9 in your system is vital for the proper development of the baby. This is because folate is foundational to the RNA & DNA building blocks and synthesis process. Folate is also involved in protein metabolism. It plays a key role in breaking down homocysteine, an amino acid that can exert harmful effects in the body if it is present in high amounts. In addition, folate is needed to produce healthy red blood cells and is critical during periods of rapid growth, such as during pregnancy and fetal development.

The MTHFR (L-5-methyltetrahydrofolate) gene is responsible for processing folic acid to create a usable form of folate for the body. When a person has an MTHFR gene variant, the body isn’t converting folate into the precise enzyme that’s required to kick off all of the important downstream reactions folate requires. While folate deficiency is dangerous for every person, it’s a big concern for pregnant women due to possible birth defects associated with it.

Each person has two copies of each MTHFR gene SNP (single nucleotide polymorphism) — they get one from each parent. Gene variants can affect one (heterozygous) or both copies (homozygous). Health issues are more likely to occur when both genes are affected. This happens in 10% to 15% of people. The two common variants of MTHFR SNP mutations are C677T and A1298C. These variants can cause a folate deficiency via poor conversion from folate to its active enzyme form, L-methylfolate (or chemically (6S)-5-methyltetrahydrofolate). 

The MTHFR enzyme is important because it plays a critical role in a process called methylation. Methylation is the chemical process of adding a methyl group to a chemical compound, hormone, or metabolite, thereby altering its function. Detoxification, hormone metabolism, myelination, energy metabolism, histamine degradation, neurotransmitter synthesis/degradation, RNA & DNA synthesis, and  immune cell function are all regulated and controlled by methylation. Improper methylation is linked to a number of chronic illnesses, including cardiovascular disease, depression, anxiety, fibromyalgia/chronic fatigue syndrome, migraines, dementia, seizures, and more.

One’s methylation status depends on many dietary and lifestyle inputs. When it comes to food, the most crucial nutrients involved in methylation include:

Vitamin B2: cofactor for the enzymatic activity of MTHFR

Vitamin B6: essential cofactor in the enzymatic conversion of folate into 5,10-MTHF

Vitamin B9 (folate): acts as a methyl donor and regulates homocysteine and SAMe.

Vitamin B12 (cobalamin): cofactor in the enzymatic conversion of homocysteine to methionine. Methylcobalamin is often used to help with methylation abnormalities, namely those with mutations in MTHFR.

Zinc: used as a cofactor that helps convert homocysteine to methionine and spares SAMe as a methyl donor.

Choline: acts as a methyl donor while sparing tetrahydrofolate (THF)

While many of these nutrients can be found in a well balanced, nutrient-dense diet, supplementation may be warranted for those that have dietary restriction, digestive issues, methylation abnormalities, or are trying to get pregnant.

Folate that is found in food is in the THF form and contains several glutamate residues, making them polyglutamates. When consumed, food folates are converted from the polyglutamate form to the monoglutamate form in the gut prior to absorption in the intestines. On the other hand, folic acid (found in fortified foods) is fully oxidized in the monoglutamate form and must be reduced by the enzyme dihydrofolate reductase (DHFR) twice before being converted to THF. The activity of DHFR is not very efficient and leads to a bottleneck and buildup of elevated unmetabolized folic acid. This can lead to impairments in DNA synthesis, “pseudo-MTHFR deficiency,” and even certain cancers in vitro and in vivo. For this reason, use of a more natural form of folate such as folinic acid (a non-methylated form of folate) and/or 5-methyltetrahydrofolate (a methylated form of folate), are preferred for those with an MTHFR gene variant. 

In addition to dialing in your nutritional needs, below are a number of other ways to support methylation and a mutated MTHFR gene:

  • Avoidance is crucial. Everyday exposures such as pesticides, BPA, phthalates, persistent organic pollutants (POPs), benzene, mold toxins, and heavy metals should be avoided as much as possible. These exposures put excessive strain on our methylation pathways.
  • Proper hydration
  • Adequate intake of dietary fiber
  • Consumption of low-toxin foods, including organic and antibiotic + hormone-free meat. Do the best you can!
  • High intake of colorful plant foods, especially deep greens, berries, and herbs such as rosemary and turmeric.
  • Regular intake of cruciferous vegetables (broccoli, kale, cauliflower, bok choy)
  • Adequate protein intake
  • Maintain micronutrient intake (Vitamin B12, folate, B2, B6, choline, zinc)

Some may experience side effects of high-dose 5-MTHF or SAMe supplementation, including worsening of symptoms such as anxiety. It’s always best to consult with your primary care provider before starting new supplements because of this factor. People who have SNPs impairing COMT and MAOA or MAOB are at increased risk for Methyl-trapping, which is a situation where folate becomes trapped and unusable by the body. In this case, it’s better to steer toward non-methylated B-vitamins.

You’ll also want to avoid/minimize:

  • Fortified grains, many of which contain folic acid
  • Excessive alcohol consumption
  • Added sugar consumption
  • Foods from animals raised with antibiotics
  • Foods from animals raised with hormones
  • High-mercury fish, including tuna, king mackerel, shark, and swordfish
  • High-heat animal food preparations such as grilling or deep frying. The chemical compounds produced from these cooking methods put additional strain on our methylation pathways
  • Plastic food and beverage containers + thermal receipts (bisphenols/phthalates)

Although this can all seem so daunting, with proper care and health management, there are a lot of ways that you can support this critically important aspect of your biology, especially as you’re looking to conceive. If you have an MTHFR variant, it doesn’t mean you will face pregnancy complications. While some research associates these variants with health problems and birth defects, it’s possible to prevent them with the right treatment. By leading a healthy lifestyle, monitoring your diet, and taking the right supplements, it’s possible to avoid complications and give birth to a healthy baby.

For more information: is a great resource.

Sources: Dr. Tyler Jean, Dr. Ben Lynch.

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