MTHFR is a gene that is closely associated with the body’s ability to detox, keep inflammation levels down, and regulate immunity.
Unless you’re a geneticist, it might feel overwhelming to consider how your genes affect your health. However, untangling the basics of MTHFR and how it might be impacting you on a daily basis is a major proactive step to protecting your long-term health. Plus, you can ease everyday symptoms you might not even know are associated with it.
What is a MTHFR Mutation?
MTHFR stands for “methylenetetrahydrofolate reductase” (which is precisely why it gets abbreviated). It is a gene that provides instructions for producing an enzyme of the same name. This MTHFR enzyme adds a methyl group to folic acid and folate, converting them to an active form and making the nutrient usable by the body. (1)
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A missing methyl group equals an inability to put folate to work. Think of the methyl group as the keys that make a car drive. Without the “keys,” folate can’t drive and get its job done in the body.
Folic acid and folate are also referred to as vitamin B9. Folic acid itself is a synthetic form of the nutrient folate, which is found in foods. Without the methyl group, people who have a genetic mutation associated with MTHFR may be unable to properly activate B9 in their bodies. This can lead to symptoms of deficiency even if they get plenty in diet or supplement form. It’s all about conversion and activation, not necessarily ingestion of the nutrient.
While people with mutations will still have genes that partially function, in most people, they could be functioning at only 20 to 70 percent of their potential.
Without the methyl group added to B9, folate is useless in the body, leading to problems converting homocysteine (an amino acid) into methionine, which is required for metabolism, muscle growth, and glutathione synthesis. Glutathione is a potent antioxidant in the body that reduces oxidative stress and decreases autoimmune activity. (2) So, lacking this crucial methyl group can lead to inflammation and several other health issues that can become chronic and long-term.
When you have a MTHFR mutation, the effectiveness of your MTHFR gene is impaired. There are multiple locations on the MTHFR gene, and you can have several mutations present on this single gene. There are two that are most commonly studied: C677T and A1298C. While these have gained most of the research, there are several other known MTHFR polymorphisms. The more mutations you have, the less effective your MTHFR gene could be.
How The Food You Eat Changes Your Genes
The simple presence of a genetic polymorphism does not mean that it’s actively hindering your gene’s ability to work. This is where epigenetics, or the way that your environment and lifestyle influence how your genes work, can become involved. You can also have active mutations that can be neutralized by lifestyle and dietary factors. Supplementing with the needed active folate, for example, could help to neutralize the negative effects of a poor-functioning MTHFR gene. It’s not always that simple, though.
All genetic mutations are inherited from your parents when you get the rest of your DNA. You are either homozygous (two copies) or heterozygous (one copy) for all genetic mutations that you have, or you can have two normal copies of a gene, meaning that there is no mutation present. You will only ever have two sides of a gene: one from your father and one from your mother. If you are homozygous for any mutation, it means you got one from each parent. If you are heterozygous, then your parents would have to be tested to determine which one passed down the mutated version. This information is not necessary, however, to address your genetic health.
With MTHFR, there are three notable categories of problematic methylation issues:
MTHFR Homozygous C677T: 30 to 40 percent of Americans are likely to have at least one copy of this mutation, with 10-15 percent of Caucasians and 25 percent of Hispanics having the homozygous mutation. (3)
MTHFR Homozygous A1298C: While firm research statistics aren’t available for the prevalence of this, it’s thought that approximately 20 percent of Americans may be homozygous for this mutation. This particular gene is associated with depression, neurotransmitter imbalances, and other complex problems, like recurrent miscarriage or infertility in both men and women. (4, 5)
MTHFR Compound Heterozygous C677T + A1298C: There are no known statistics on the prevalence of this compound heterozygous mutation, but research suggests it could be the most problematic scenario. The mutations occur in two places on the gene, resulting in a dramatically reduced gene capacity. It has similar homocysteine and inflammatory complications as those associated with homozygosity of C677T. (6)
It is estimated that 40 to 60 percent of the population has at least one mutation on the MTHFR gene while 14 to 20 percent may have one of the aforementioned severe combinations.
Bottom line: MTHFR is a gene that produces an enzyme that is essential for numerous processes in the body that regulate health: inflammation, detox, fertility, and more. With a MTHFR mutation and the lack of the proper nutrient activation, you can suffer from numerous symptoms.
MTHFR Mutation Symptoms
- Elevated homocysteine levels (shown via a blood test)
- Elevated LDL and suppressed HDL
- Inability to activate B6, B9, and B12
- Brain fog
- Insomnia and sleep problems
- Histamine problems
- Alcohol intolerance
- Detox problems
- Addictions, including alcoholism
- Chronic pain in the joints and muscles
- Restless legs
- Obesity and weight problems
Conditions Linked to MTHFR Mutations
- Bipolar disorder
- Polycystic ovary syndrome
- Diabetes, type 1 or type 2
- Chronic fatigue syndrome
- Parkinson’s disease and other tremor disorders
- Irritable bowel disease and other intestinal disorders
- Pregnancy complications such as preeclampsia and postpartum depression
- Thyroid disease
- Any autoimmune disease
- Down syndrome and neural tube disorders
- Heart disease and risk for heart attack
- Autism and other developmental problems, especially in children
- Recurrent pregnancy loss
- Colon cancer
Bottom line: MTHFR can have a significant impact on both short-term quality of life and long-term health and disease development.
4 Ways to Manage MTHFR Symptoms and Risks
Since MTHFR is far from rare, many people could discover that they possibly have problematic genetic combinations. However, thanks to modern understanding of how diet and environment can “turn on” or “turn off” our genetic mutations, we can have a say in how our genes continue to work.
By making some dietary and lifestyle adjustments, people with MTHFR mutations can alleviate symptoms, decrease associated health risks, and improve their general health and the outlook of chronic conditions.
1. Manage Stress
Stress of any kind can hamper all kinds of methylation activity in the body, a.k.a. can impair the body from transferring active folate to substances elsewhere. This can result in decreased use of critical nutrients like B6, B9, and B12 as well as reduced levels of the master antioxidant, glutathione. (19)
As if stress isn’t bad enough, the actual presence of stress can cause the body to be unable to complete the tasks it needs to counter the effects of stress.
Help your body cope with stress by:
- Practicing yoga, meditation, Tai Chi, or deep breathing to engage the parasympathetic nervous system and combat the constant “fight or flight” response.
- Exercise regularly to promote a healthy weight, decrease inflammation, and get better sleep.
- Spend time outside, both to get vitamin D and to soak up the balancing effect of nature, which is scientifically proven to decrease stress levels. (20)
- Avoid processed and synthetic foods. Instead, reach for fresh vegetables, healthy fats, and antioxidant fruits.
2. Completely Avoid Synthetic Folic Acid and Processed Foods
When you have MTHFR mutations and you load your body with synthetic folic acid or supplemental folate that is not activated, your body is not only unable to use these nutrients, but you also risk toxicity. When you have MTHFR, it’s important to stop taking synthetic supplements and switch to activated ones.
As always, don’t stop supplements or medications without consulting your doctor. However, if you have MTHFR and your doctor advises higher doses of folic acid, seek a second opinion from a medical professional who is well-versed in genetics.
3. Supplement with Active Folate
Known as 5-MTHF, activated folate already contains the methyl group and doesn’t need to be converted in the body. This allows it to get to work right away. Many nutrients, including active folate, are essential for the production of neurotransmitters including serotonin and dopamine. Deficiencies or conversion issues can manifest as depression, anxiety, or similar nervous system disorders. (21, 22)
However, it’s not as simple as taking a few pills. Some people can be highly sensitive to methylated supplements and may need to get the nutrients they need in a milder way. Working with a practitioner who understands methylation is a vital first step.
Active forms of B12 and B6 can also be beneficial for the function of active folate. While these can all be obtained directly from food sources, if gut issues are present, they may not digest and absorb properly. For people with homozygous or compound heterozygous mutations, it’s best to properly supplement to ensure continuous availability of these vital nutrients.
4. Support the Gut
When your body is genetically impaired in its ability to activate or use nutrients, you can minimize the effects by optimizing gut health. The gut is where nutrients are absorbed and used in the body, so keeping your gut running efficiently is key.
This doesn’t only mean eating a gut-friendly diet but living a lifestyle that minimizes exposure to toxins and chemicals that can enter the body and cause problems like leaky gut. Digestive issues are common in people with MTHFR mutations, ranging from stomach acid imbalances to problems in the small intestine. They can also be prone to higher incidences of allergies and inflammation. When leaky gut occurs, this can deplete nutrients and exacerbate conditions that exist or are genetic tendencies.
Boost your gut health naturally by:
- Eliminating all processed, synthetic, and refined foods
- Eliminating foods that you are allergic or sensitive to
- Eliminating GMOs, grains, dairy, and sugar from your diet
- Increasing probiotic supplements and foods
- Staying hydrated
- Eating plenty of fiber
- Consuming foods and supplements that repair the gut lining, including bone broth, collagen, and glutamine
Bottom line: MTHFR is far from a sentence to terrible health, although many who have it are able to tie it to years of symptoms and conditions that are difficult to address. Once you eliminate triggers and focus on optimizing nutrient levels, you can start taking steps towards a healthy and vibrant lifestyle.
(Read This Next: Nutrigenomics: Discovering What Your Genes Want to Eat)