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MTHFR Gene Mutations

Methylenetetrahydrofolate reductase (MTHFR)

MTHFR Gene Mutation? It May be Slowing You Down

Methylenetetrahydrofolate reductase (MTHFR) is a gene mutation that affects how your body handles folate. Nearly half of all people have a mutation in the MTHFR gene.  Using the activated form of folate, such as MethylPro®, can override the MTHFR genetic mutation and help you get the folate you need for brain and cardiovascular health.

MTHFR is one of the most important enzymes in folate metabolism (see Figure 1). The enzyme “turns on” the folate precursor to make L-methylfolate, the kind of folate that is most useful to the body. The MTHFR gene tells the body how to make the MTHFR enzyme. If the gene doesn’t have the right DNA code, it means that the enzyme will not work well. MTHFR is the most widely researched gene mutation in folate metabolism because it can lead to high homocysteine which can cause heart attacks, strokes and blood clots.1

Folic acid and folate have to be prepared by the body before they are ready to use. Folic acid (red) is synthetic (man-made) and enters the body in the form of over-the-counter vitamins and fortified foods. Dietary folates (red) occur naturally and come from fruits, vegetables, and whole grain products. Enzymes (blue) needed to activate folate are dihydrofolate reductase (DHFR) and methylenetetrahydrofolate reductase (MTHFR).

Once L-methylfolate (otherwise known as 5-methyltetrahydrofolate or 5-L-MTHF) is produced, it can be transported into cells, tissues and even across the blood-brain barrier. Folate deficiency arises when people have poorly functioning enzymes in the pathway, such as an MTHFR mutation.

Folic Acid Metabolism Graph

What is Your MTHFR Status?

If you have an MTHFR gene mutation, your MTHFR enzyme is not optimal. This prevents folate from doing its job to keep your brain, cardiovascular, and reproductive systems healthy.

Because of this mutation, you may not be getting enough folate, even with a healthy diet and a multivitamin. Taking L-methylfolate can supplement your nutrition and help support the MTHFR mutation, giving you the folate you need. As with all genes, you get one copy from your mother and one copy from your father. Some people have a mutation in one or both copies of the MTHFR gene. There are two common MTHFR gene mutations: C677T and A1298C. You can have either one, or both.


This is the most common MTHFR gene mutation. Twenty to forty percent of white and Hispanic people in the United States have this mutation. It means that the MTHFR enzyme can only work at 30-60% of its capacity. 1


This mutation is found in 7-12% of whites and <4% of Hispanics and Asians. With this mutation, the enzyme can only work at 60% of its capacity. 1

Don’t get confused by the names. They are just number and letter codes that tell scientists exactly how the DNA is switched up for these mutations.

What Your MTHFR Lab Results Might Say

“Positive for Two Copies” of the Mutation


You have two mutated copies of the MTHFR gene and your MTHFR enzyme is probably working poorly.

“Positive for One Copies” of the Mutation


You have one functioning copy of the gene and one mutated copy of the gene. The MTHFR enzyme may be working slowly or inefficiently.

“Negative/Normal” for the Mutation


You do not have any mutations in either copy of your MTHFR gene. This is the optimal result.

Find out your MTHFR Gene Status

You or your doctor can order a test to find out if you have the MTHFR gene mutation.

Your physician can order the test from laboratories such as: Kashi, Genova Diagnostics, LabCorp, Quest Diagnostics, and SpectraCell Laboratories. 23&Me is a lab test that you can order without a doctor’s prescription.

MTHFR Gene Status

MethylPro® is your solution

MTHFR is a common gene mutation that can affect how your body handles folate. If your MTHFR enzymes are working slowly, then you cannot get the benefits of folic acid found in food and dietary supplements. Your doctor might recommend MethylPro® to bypass your MTHFR gene mutation and boost your folate levels for brain, cardiovascular, and reproductive health.


1.         Moll S, Varga EA. Homocysteine and MTHFR Mutations. Circulation. 2015;132(1):e6-9.