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The MTHFR gene mutation doesn’t exactly pop up in everyday conversation, but that doesn’t mean it isn’t important. In fact, if you have this genetic issue, you could be at an increased risk for some pretty serious health problems.

Here’s some information on the MTHFR genetic mutation, including how you can find out if you have it.

Reminder: this is just an overview. If you want to be tested for the MTHFR mutation, or if you want to know how it may impact YOUR health specifically, it’s best to speak with your doctor.

Why Does the MTHFR Gene Matter?

The MTHFR gene is key to your body’s ability to produce an important enzyme called methylenetetrahydrofolate reductase. MTHFR is the abbreviation for the enzyme.

This enzyme activity is very important for your body. For example, it allows the body to use folate, or vitamin B9.

The MTHFR gene also helps your body convert an amino acid known as homocysteine into another very important type of amino acid known as methionine.

You need methionine for your body to make proteins.1 The process by which MTHFR helps produce folate and methionine is known as methylation. In a nutshell, methylation involves one substance donating atoms to make another.2 If methylation doesn’t occur with MTHFR, you won’t have enough methionine or folate.

MTHFR gene mutation | Gundry MDFolate and Folic Acid

Folate is very important in making sure the body works as it should. In fact, you can’t really talk about the MTHFR gene without looking at folate. After all, if the gene doesn’t work properly, then you can’t get the benefits of folate.

If you don’t have enough folate, you could have high homocysteine levels.

Elevated homocysteine levels have been identified as a risk factor for heart problems. Homocysteine doesn’t necessarily cause heart problems, but it can put you at higher risk for those problems.3

Low folate levels have also been linked to an increased risk of birth abnormalities.4

About Folic Acid

Folic acid is a synthetic form of folate – one you get through supplementation. You can find folic acid supplements in just about any drugstore or grocery store. Folic acid is also sometimes added to breakfast cereals and other types of processed foods. Talk to your doctor to see if you could benefit from taking synthetic folic acid supplements.

You might have also heard that unmetabolized folic acid can lead to health issues. That is, if your levels are too high, you might be at risk for problems. It appears that the jury is still out as to whether this is a myth or a reality.5

Is Homocysteine All Bad?

Homocysteine plays an important role in your metabolism. You need a healthy metabolism to have enough energy. Homocysteine is associated with certain health problems, but is it necessarily an evil amino acid? The answer seems to be somewhere in the middle.

If you have low levels of homocysteine, you could be at risk for certain nerve issues. But if you have too much, you can develop problems as well.

It appears that there’s a “sweet spot,” so to speak, where your body can benefit from homocysteine without suffering negative side effects.

Your doctor can perform a quick blood test to check your homocysteine levels. If your levels are too high or too low, they can help you get them where they need to be.6

MTHFR Genetic Mutation

Okay, so let’s get back to the MTHFR gene. Everyone has two copies of this gene, which, again, is critical for folate metabolism. In some cases, though, people have genetic variations of MTHFR. Some gene variants are beneficial; others aren’t.

By the way, the terms “variant” and “mutation” are often used interchangeably when describing altered genes. There’s really no clear-cut scientific consensus as to which term should be used when discussing genetic alterations.7

Anyway, an MTHFR gene mutation is labeled either heterozygous or homozygous. If you have a heterozygous MTHFR gene mutation, that means you have one copy of the mutant gene. A homozygous MTHFR gene mutation means you have two copies.8

MTHFR gene mutation | Gundry MD


So, What’s the Big Deal?

If you have an MTHFR gene mutation, no matter what type, you may be at a higher risk for certain health issues. If you don’t have enough folate, or vitamin B9, that can be bad.

One of the worst MTHFR mutation symptoms is folate deficiency.

Many symptoms are associated with folate deficiency. It can lead to ulcers on the tongue and other areas of the mouth.9

Symptoms of folate deficiency also include the loss of the sense of taste, diarrhea, weight loss, and even cognitive issues.10

Can You Get Tested for an MTHFR Mutation?

Thankfully, you can go to your doctor to have an MTHFR mutation test. Genetic testing for MTHFR can let you know if you have a vitamin deficiency due to a lack of folate.

If you had a blood test that showed you have too much homocysteine, or a relative has been diagnosed with an MTHFR mutation, you may want to get checked. Your doctor will take a small blood sample; the test usually takes about five minutes.11

Consider getting an MTHFR test if you have any reason to believe you have a genetic mutation. It could go a long way toward helping you deal with any issues you might be experiencing.

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