What is MTHFR Gene Mutation? Why Is It Important?

What is MTHFR Gene Mutation? Why Is It Important?

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What is MTHFR???

You might be asking, what is MTFHR all about? Simply put, this particular gene variation can impact how well your body can metabolize folate and folic acid. Both of these are forms of Vitamin B9 which are required for numerous critical bodily functions.

MTHFR provides your body with instructions for making a certain enzyme called methylenetetrahydrofolate reductase or «MTHFR» for short.

Methylenetetrahydrofolate reductase plays a central role in converting folate into the active form that is found circulating in your blood. This form of folate is then utilized in the process of lowering homocysteine levels in your body.

Why is this important?

Maintaining appropriate levels of homocysteine is important in the prevention of chronic diseases such as coronary artery disease (CAD), stroke, Alzheimer’s and autism. Mutations in the MTHFR gene can cause it to be less efficient in converting folate to its active form, which in turn may lead to elevated levels of homocysteine. 

What is a MTHFR Mutation?

There are two main MTHFR mutations that researchers focus on most often. These MTHFR mutations are called «polymorphisms» and are referred to as C677T and A1298C. Mutations can occur on different locations of these genes and be inherited from only one or both parents. Having one mutated allele (a variant form of a given gene) is associated with increased risk of certain health conditions but having two increases the risk further.

For instance, C677T indicates that at position 677 within the MTHFR gene, a person can have either a C or a T allele. If a person inherits a T allele from one parent, their MTHFR enzyme will be about 35% less efficient than someone who inherited a C allele from both parents. A person who inherits T alleles from both parents will have an MTHFR enzyme that is about 70% less efficient.

MTHFR Mutation Symptoms:

Symptoms vary from person to person and from variant to variant. And, more often than not, unless you have testing done, you’ll never become aware of your MTHFR mutation status. MTHFR mutation research is still evolving, and direct evidence linking the mutation to a specific health condition is lacking, has been previously disproven, or should be taken likely. Like many health conditions, there’s no proverbial ‘x’ that marks the spots in terms of symptoms correlation.

There have been many conditions that have been proposed to be associated with MTHFR. These can include:

  • Depression
  • Bipolar disorder
  • Anxiety
  • Schizophrenia
  • Acute leukemia
  • Colon cancer
  • Cardiovascular and thromboembolic disorders
  • Chronic pain and fatigue
  • Migraines
  • Recurrent miscarriages in people of child-bearing age


How does this affect you?

There is still a lot to learn about what these types of mutations mean for people who carry them and go on to pass them along to their children. Just because someone inherits the MTHFR mutation doesn’t mean they will experience any problems. To date, there have been several different health conditions attributed to MTHFR mutations. The science is evolving on which, if any, health conditions are caused by, or at least partially connected to, MTHFR gene mutations.

Another thing to keep in mind is that even if you or a loved one has a MTHFR mutation, it doesn’t necessarily mean that you need to seek medical treatment for it. More than likely, if you do have a MTHFR mutation, it won’t affect your daily life. You should seek medical treatment to test for a MTHFR mutation and rule out any sort of related health concern, however, if you do believe you might have inherited a mutation.

Testing for an MTHFR Mutation

You should get tested for a potential MTHFR if you have substantially high homocysteine levels. Homocysteine is a common amino acid that is primarily gotten through eating meat. Having high levels can point to a number of health issues, including heart disease. It’s also associated with low levels of vitamins B6, B12, and folate, as well as renal disease.

If you are interested in getting tested for a MTHFR mutation, talk to your doctor about getting blood work done and the pros and cons of it. Also, keep in mind that genetic testing may not be covered by your insurance, so you might have to pay a lot of money out of pocket. But, there are some at-home genetic testing kits you can use.

Diet and Lifestyle Considerations

Taking a DNA test that reports on MTHFR can tell you if you have a mutation. It is important to note that your health is influenced by your genetics and also impacted by your lifestyle choices — what you eat, how much you exercise, your medications, your environment and so on.

In the United States, food made with grains such as cereals, pasta, bread and rice are enriched with folic acid, another form of vitamin B9, so it is no longer common to have a folate deficiency. Folate deficiency in pregnant women was found to be the cause of a group of birth defects known as neural tube defects.

Supplementation with folic acid or folate especially during the first three months of pregnancy is needed to reduce the risk of these birth defects.

If you are concerned about folate deficiency, high homocysteine levels or are planning on getting pregnant, there are certain actions you can take to help you stay healthy.

  1. Have a routine blood test to check your levels of B vitamins and homocysteine.
  2. Consider a supplementation plan that includes a bioavailable form of folate (I-methylfolate) if your tests indicate you are deficient in folate. These supplements have folate already in the activated form so MTHFR is not needed for your body to use it, bypassing any decreased efficiency caused by MTHFR mutations.
  3. Consume more natural folate, Vitamin B6 and B12. Having more folate in your diet is a preventative measure.
  4. Some of the best high-folate foods include:
    • Beans & Lentils
    • Leafy green vegetables like raw spinach
    • Asparagus & Broccoli

Final Thoughts

Partnering with Vitagene ensures you can take advantage of ongoing MTHFR research which is continually surfacing new information. Vitagene's new DNA based report updates can now tell you whether you carry the MTHFR mutation. At Vitagene, we leverage the latest scientific developments combined with your genetic makeup, lifestyle choices, medications and medical history to recommend actionable plans to meet your health goals.

These plans are updated in real-time as you modify your lifestyle profile, upload new medical information and as new clinical research becomes available. By providing easy, affordable access to genetic information and personalized guidance on how to use it, we help you make educated and proactive lifestyle choices leading to better health outcomes.

Sarah Lewinsky

is a research associate at Vitagene who graduated from UC San Diego with a B.S. in Biology and B.A. in Psychology. For the past seven years she has been involved with companies that take a systems biology approach to integrating genetic, epidemiological and physiological scientific research into comprehensive views of pharmacology, health and wellness.

Shahin Gorgani

is a nutritionist and research associate at Vitagene. He has been working for companies that utilize scientific research, genetics and nutritional science to provide personalized recommendations. He has a B.S. in Clinical Nutrition from UC Davis.


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