What is the MTHFR?

September 27, 2021Hormones

Happy August to all our Revitalize Patients!

We strive to help our patients increase their energy. One way we do this is by testing the MTHFR gene. This month we are going to break down just exactly what the MTHFR gene is and what it does.

What You Need to Know About the MTHFR Gene

MTHFR stands for methylenetetrahydrofolate reductase. It’s getting attention due to a genetic mutation that may lead to high levels of homocysteine in the blood and low levels of folate and other vitamins.

There’s been concern that certain health issues are associated with MTHFR mutations, so testing has become more mainstream over the years.

Variants of the MTHFR mutation

You can have either one or two mutations — or neither — on the MTHFR gene. These mutations are often called variants. A variant is a part of a gene’s DNA that’s commonly different, or varies, from person to person.

Having one variant — heterozygous — is less likely to contribute to health issues. Some people believe having two mutations — homozygous — may lead to more serious problems. There are two variants, or forms, of mutations that can occur on the MTHFR gene.

Specific variants are:

  • C677T. About 30 to 40 percent of the American population may have a mutation at gene position C677T. Roughly 25 percent of people of Hispanic descent, and 10 to 15 percent of Caucasian descent, are homozygous for this variant.
  • A1298C. There’s limited research regarding this variant. Available studies are generally geographically or ethnic-based. For example, a 2004 study focused on 120 blood donors of Irish heritage. Of the donors, 56, or 46.7 percent, were heterozygous for this variant, and 11, or 14.2 percent, were homozygous.
  • It’s also possible to acquire both C677T and A1298C mutations, which is one copy of each.

Gene mutations are inherited, which means you acquire them from your parents. At conception, you receive one copy of the MTHFR gene from each parent. If both have mutations, your risk of having a homozygous mutation is higher.

Symptoms of MTHFR gene mutation include:

Cardiovascular and thromboembolic diseases



Chronic pain and fatigue


Treatment for Related Health Concerns of the MTHFR

Having an MTHFR variant doesn’t mean you need medical treatment. It could just mean you need to take a methylated B supplement, that can better be metabolized by the body.

Revitalize Supplement Recommendations

MTHFR mutations require a methylated form of B vitamins. Here are the supplements that we recommend to our patients, as well as where to find them!


We recommend a Methyl B12 supplement that is at least 5,000 mcg.






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