MTHFR gene

MTHFR Gene Variants & Mutation


MTHFR Gene | You may have seen the abbreviation MTHFR in recent health news and wondered what it means. MTHFR, is not an abbreviation for a curse word. This abbreviation actually refers to a common gene mutation. MTHFR stands for methylenetetrahydrofolate reductase. When the MTHFR gene has a gene variant, the result may lead to elevated levels of homocysteine, and decreased levels of folate in the blood. This may cause a plethora of adverse health conditions. A lot of attention has recently been focusing on the MTHFR gene because of the health risks associated with its gene mutation. 


What is the MTHFR gene?

According to the U.S. Library of Medicine (, the MTHFR gene plays a role in making the enzyme methylenetetrahydrofolate reductase. This enzyme helps to process amino acids, specifically homocysteine to methionine, which is needed in our bodies to make proteins, detox, recycle and make hormones and other compounds. Individuals who have common MTHFR variants may have normal or elevated levels of homocysteine in their blood. However, MTHFR gene variants and elevated homocysteine levels are currently being studied as risk factors for various health conditions. 


Symptoms of a MTHFR gene mutation

There are different gene mutations that can happen on the MTHFR gene. Therefore, symptoms will vary depending on the person as well as the type of gene variant. It is important to note that research is still fairly new in this area. There are many claims that this type of gene mutation causes certain health conditions. If you are concerned about a gene mutation it is important to get testing done for a diagnosis.


Here are the health conditions that have been linked to this type of gene mutation:

  • Blood clots
  • Heart attacks
  • Stroke
  • Depression
  • Anxiety
  • Bipolar disorder
  • Schizophrenia
  • Colon cancer
  • Leukemia
  • Chronic pain and fatigue
  • Hypothyroidism
  • Nerve pain
  • Pregnancies with neural tube defects
  • Recurrent miscarriages


High levels of homocysteine can also be a result of dietary deficiencies of folate, vitamin B12, and vitamin B6. It is very important know if you are deficient in any of these vitamins, especially B12, as this deficiency can be masked by high doses of folic acid. A vitamin B12 deficiency can lead to irreversible health conditions. 


Treatment and diet for MTHFR gene variants

Treatment and lifestyle changes are dependent on the individual as well as their life circumstances. Typically a B vitamin supplement will be given to prevent any dietary deficiencies. If homocysteine levels are high, lifestyle changes such as quitting smoking, participating in regular exercise, and eating a balanced diet will help. 


The MTHFR gene mutation may prevent the body from processing folic acid and other B vitamins. Therefore, eating foods that are rich in folate may help naturally prevent vitamin deficiencies. Here are some foods that are rich in folate:

  • Beans and legumes
  • Vegetables: spinach, asparagus, beets, broccoli, Brussels sprouts, and bok choy
  • Fruits: cantaloupe, banana, honeydew, grapefruit, and strawberries
  • Peanut butter
  • Sunflower seeds


If you are concerned that you may have a MTHFR gene mutation, consider a consult with a doctor of functional medicine Overland Park, KS, who can assist you. As a specialist in functional medicine, the best treatment plan will be created to help your symptoms and improve your overall health.

Contact in2GREAT today for more information. 

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Dr Corey Priest, DC - Functional medicine practitioner

About the author

Dr. Corey Priest has been practicing functional medicine since 2001. in2GREAT was founded in 2014 by Dr Priest after 13 years of experience with his other practices. Over his career, Dr. Priest has worked with and helped well over 10,000 patients under a functional medicine model.

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