Do You Need the MTHFR Test?

What is the MTHFR test?

The MTHFR test or methylenetetrahydrofolate reductase test has become extremely popular due to a number of alternative medicine practitioners promoting it as the source of many chronic illnesses.  But is it something you should worry about?

This test is basically looking for two types of genetic mutations known as C677T and A1298C that affect the MTHFR enzyme involved in folate metabolism in your body.

Proper MTHFR enzyme function ensures that homocysteine is properly metabolized to the amino acid methionine which then makes SAMe. SAMe is known as the “universal methyl donor” which is extremely important for serotonin, melatonin and your DNA.

Folate is a B-vitamin and is important because it is at the heart of metabolism and the production of all your cells. Without it, nothing really works well so our list of symptoms and health problems would be extensive.

The National Library of Medicine Genetics Reference states that MTHFR:

“The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate (also called vitamin B9). Specifically, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called 5-methyltetrahydrofolate. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.”

How common is it?

Approximately 5-14% of the US population has two copies of the MTHFR mutation.  It is the most common in those of Mediterranean descent and lowest in those of African ancestry.  In America, about 25% of people who are Hispanic, and 10-15% of people who are Caucasian have two copies of C677T.


Should you worry about Homocysteine and MTHFR?

Although controversial in its connection with cardiovascular disease, elevated homocysteine levels may damage blood vessel walls leading to plaque (atherosclerosis) development and thus the potential for a heart attack, stroke or blood clot.

Homocysteine requires healthy levels of folate, vitamin B12, and vitamin B6 to be metabolized properly.  Recent data, however, shows that supplementation with these vitamins to lower homocysteine levels does not produce any benefit regarding cardiovascular risk reduction.  This is most likely due to the complexity of cardiovascular disease which doesn’t have a single cause such as elevated homocysteine.

Elevated homocysteine levels, however, are rarely connected to a single genetic variant.  Patients with elevated homocysteine should be thoroughly evaluated for the causes of elevated homocysteine such as:

  • Hypothyroidism
  • Obesity
  • Diabetes
  • Insulin resistance
  • Inflammation
  • High cholesterol
  • High blood pressure
  • Lack of physical activity
  • Aging
  • Smoking
  • Medications (atorvastatin, fenofibrate, methotrexate, and nicotinic acid)

Are there any disease connections to MTHFR?

The only conditions with significant scientific support connected to MTHFR are the following:

  • Spinda bifida
  • Homocystinuria
  • Age-related hearing loss
  • Anencephaly (neural tube defect)
  • Blood clots

There are many claims on the internet that MTHFR is linked to cardiovascular disease, high blood pressure, stroke, glaucoma, certain cancers, and some psychiatric disorders.  All of the studies related to these conditions with MTHFR have mixed results with some studies finding no association.  So at this point, there is no clear scientific evidence that MTHFR alone has any connection to these disorders.

This is a classic example of cherry picking by alternative practitioners extracting the information from the mixed studies that support their own agenda and ignoring the opposing evidence.

According to Daniel Leclerc, Sahar Sibani, and Rima Rozen in their book chapter Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of Mutations/Polymorphisms:

“Although numerous clinical association studies have been performed on MTHFR variants, conclusions have been contradictory in some cases, due to the multifactorial nature of the disorders and our inability to identify the multiple genetic and environmental factors that can interact with MTHFR polymorphisms to impact disease risk. The biologic and tissue-specific impact of MTHFR deficiency has also not been adequately addressed since these types of investigations cannot be readily performed in human subjects; the availability of an animal model may be useful in this regard.”

I would like to echo their conclusion that all of these conditions have multifactorial components so the disease cannot be linked to a single genetic polymorphism.

Additionally, there is no evidence that supplementing with methylated folate will prevent any of these conditions if the MTHFR polymorphism is present.  Practitioners who are instructing patients to take methylated folate to treat or prevent any of these conditions are going on pure speculation.

Why should you get the MTHFR test?

There really is no reason to get tested for MTHFR because this test is considered experimental and it does not give you any valuable information about your body.  If you are pregnant and concerned about neural tube defects then take a high-quality prenatal vitamin which will contain folate as well as the other b-vitamins.  If your homocysteine levels are elevated then have a knowledgeable medical professional evaluate you for the underlying causes as noted above.

There is no evidence that getting tested and supplementing with methylated folate will help you in any way with your health.  If you come across anyone promoting this test as something you should worry about then I would look elsewhere for credible health information.

Is MTHFR actually a good thing?

The MTHFR polymorphism may actually be a good thing such as a reduced risk of prostate cancer.  It also has a protective effect on the kidney when homocysteine levels are elevated as well as a protective effect in male infertility.  MTHFR has also been shown to be protective in preeclampsia.

Additional protective effects include:


Oral cancer

Gastric cancer


Lymphoblastic leukemia

And even if your homocysteine levels are elevated due to MTHFR, it has been shown that having adequate riboflavin levels negates any negative effects from the elevation.

So as you can see, MTHFR is a normal genetic variant that you shouldn’t worry about at all.  In fact, it has many protective effects for your body that one should be grateful for having if an MTHFR polymorphism is present.

Perhaps in the future, we will find strong associations between the MTHFR genetic variant and a specific condition but even at that point, we would have to perform follow-up studies with patients taking methylated folate and then follow them throughout life to see if it makes a difference.  Even then we wouldn’t be able to clearly claim that the supplement alone was part of the risk reduction.  This is because there are so many other factors in life that come into play with all diseases.

Save your money and avoid getting tested for MTHFR because you have absolutely nothing to worry about based on the current scientific understanding we have of this genetic polymorphism.

Would you like additional information from a credible source?  23andMe which is currently the most popular genetic testing company has done the research on this and they came to the same conclusion as I have.  You can read their article on this here.

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