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What is MTHFR Gene Mutation? Common Symptoms & Supporting Your Overall Health

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Recently, we’ve noticed more people coming in with and asking about the MTHFR gene mutation. It seems that more and more healthcare professionals are looking out for this mutation, especially because many proposed symptoms and conditions may be associated with this genetic mutation. 

However, this is still a relatively unknown mutation to many people. Keep reading to learn about MTHFR, its common symptoms, and its relationship to folic acid in the body. 

What is MTHFR?

The MTHFR gene provides your body with instructions for creating the enzyme “methylenetetrahydrofolate reductase.” 

This vital enzyme helps the body process amino acids, the building blocks of proteins, and is especially important for folate processing. According to the CDC, your body uses folate to modify proteins and even make DNA. Folate, also known as vitamin B9, is converted to different types of folate using a chemical reaction with the MTHFR enzyme. 

For example, the MTHFR enzyme helps the body convert folate into different forms that can be used in the bloodstream. This multistep chemical reaction is also essential for converting amino acids, like homocysteine, to other amino acids, like methionine. Your body uses methionine to create additional proteins and other critical compounds. 

What is MTHFR Gene Mutation?

When someone says they have MTHFR, they are usually referring to a gene variant or mutation with the MTHFR gene in their body. Every human has two copies of the MTHFR gene in their body - one from the father and one from the mother. Occasionally, mutations occur. 

The two variants that can occur with the MTHFR gene include: 

  • A1298C: Around 7 to 12% of the North American, Australian, and European populations have tested positive for this specific mutation. 
  • C677T: It’s believed that people with a mutation at the C677T position on the MTHFR gene are even more common, but research is still being conducted.

One person can have both mutations simultaneously, as you’d have one copy of each mutation on each gene. 

Like all gene mutations, you must acquire the mutation from your parents. Everybody receives one copy of the MTHFR gene from each of their parents. If you have both mutations, you may be at a higher risk of your homocysteine amino acid levels being off, which may affect your body’s functioning. 

Common Symptoms of MTHFR Gene Mutation

People often find out that they have the MTHFR mutation through DNA testing using genetic ancestry and health information testing kits or performing research on their own and bringing it up to their healthcare provider. 

Because not a lot of research has been done on this genetic mutation, we’ve seen many of our clients with the MTHFR mutation coming in and expressing frustration over their healthcare professional ignoring their symptoms or not tying them together with the MTHFR mutation. We are always sorry to hear this and want to recognize that your symptoms and experiences are 100% valid. 

If you are looking into this mutation, keep reading to learn more about some of the most common symptoms. 

One common symptom of having the MTHFR gene mutation is elevated homocysteine levels, which The National Blood Clot Alliance claims may irritate the blood vessels. It may also put some individuals at a higher risk of blood clots, but only if they have the mutation and elevated homocysteine levels. The National Blood Clot Alliance shares that the MTHFR mutation in itself is not a clotting disorder or risk factor unless you are experiencing elevated homocysteine levels. 

Some individuals with the MTHFR gene mutation also need to supplement their diet with additional folate or B vitamin supplements to support their body, which may not process amino acids and folate ideally. However, this will vary from person to person and should always be discussed with a healthcare professional. 

Other common conditions that are proposed to be associated with MTHFR are:  

  • Anxiety
  • Depression
  • Bipolar disorder
  • Schizophrenia
  • Colon cancer
  • Cardiovascular diseases (blood clots, stroke, embolism, and heart attacks)
  • Acute leukemia
  • Chronic pain 
  • Fatigue
  • Nerve pain
  • Migraines
  • Pregnancies with neural tube defects, like anencephaly and spina bifida (Some studies have shown a minimal increased risk associated with the MTHFR gene.)
  • Recurrent miscarriages

Research about the MTHFR gene mutation is still in its early stages and needs more dedicated research to connect conditions like these to the mutation. However, these are conditions and symptoms to keep in mind if you have the MTHFR mutation, as the conditions could be related to one another. 

Folate, Folic Acid and the MTHFR

Individuals who can’t properly code MTHFR are prone to folic acid becoming “stuck” in the body and not processing correctly into a usable form that the cells can use. As a result, many with the MTHFR mutation require folate supplements to support their bodies and optimize their health.

So, why is folate so important? 

Folate is the general term for the many forms of vitamin B9 and occurs naturally in many delicious foods, such as citrus fruits, beans, leafy green vegetables, and more. While the MTHFR variant may affect how a body processes folate, it doesn’t prevent it from processing it entirely. Many physicians suggest patients with the MTHFR variant take an additional folate or B vitamin supplement, but this will be on a case-by-case basis. 

One of the common worries for women with the MTHFR variant is having a pregnancy with neural tube defects. However, the CDC shares that eating a balanced diet rich in natural folate from your food and, often, taking a folate supplement if you’re trying to get pregnant or are pregnant is recommended for women with and without the MTHFR variant to minimize this risk. 

Again, this should always be discussed with your doctor, but most women, regardless of whether they have the mutation, are usually advised by their physician to take folate daily to support their health and their baby’s wellbeing. Taking folate may be especially critical for mothers or mothers-to-be with MTHFR since this mutation affects folate processing.

Supporting Your Overall Health

If you have the MTHFR variant, it’s naturally frustrating not to have all the answers about what this variation may or may not affect. 

As frustrating as this is, you can still take control of other aspects of your life by supporting yourself with the healthiest lifestyle possible. Eating a well-balanced diet, exercising, and taking appropriate supplements are all ways to support your body and promote good health, especially as we wait for additional research to come out on MTHFR. 

A few other supplements to consider to support yourself include an active b-complex with folate, or p5p (activated Vitamin B6), or B6 Complex which supports methylation in the body. 


Thanks for reading! We hope this article helped you understand more about the MTHFR variant and cleared up some of the common (and scary) misconceptions out there. 

Well Wishes, 

Herbalist Natalie & Herbalist Leilah

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