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The MTHFR Gene Mutation Explained and What To Do About It

Identifying whether or not you have the MTHFR gene mutation is important for understanding more about your ability to absorb folate. Folate plays essential roles in the body to prevent disease, stabilize mood, and support a healthy pregnancy.

 

What is MTHFR?

 

MTHFR stands for methylenetetrahydrofolate reductase, which is an enzyme that processes amino acids and converts folate into its active form called methyl folate. There is a certain gene, called the MTHFR gene, that provides the instructions for making the MTHFR enzyme.

 

Unfortunately, there are two common genetic variants or mutations that may reduce the activity of the MTHFR enzyme. The first is the C677T mutation, which indicates that at the 677 gene position, where it's more common to see a C as the base, there is instead a T. The second is the A1298C mutation, which is written in the same way as the previous one.

 

Since folate plays such a vital role in the body these genetic variants may greatly impact health.

More About Folate

Folate is also known as the B9 vitamin. It plays a role in the synthesis, repair, and methylation of DNA and RNA, both vital for cell division. Folate also supports the nervous system creating neurotransmitters that regulate mood like serotonin, norepinephrine, and dopamine. 

 

There are several forms of folate, which include

• Natural folate, found in foods and easily converted in the body to its active form, 5-MTH.

• L-Methylfolate or 5-MTHF, is found naturally in the body as well as in some supplements. It’s the biologically active form of folate that doesn’t require conversion to be used. 

• Folic acid is a synthetic form of folate used in fortified foods and supplements. It can be converted to the active form 5-MTHF, but this process is not as efficient and requires the MTHFR enzyme.  

• Folinic acid is another form found in supplements, but different from folic acid in that it is easily converted to the active form of folate in the body. 

How This Gene Mutation May Impact Health

Reduced MTHFR activity caused by a gene mutation can make it difficult for the body to convert folate or folic acid to the active form, methylfolate or L-methylfolate. This may lead to a build-up of homocysteine in the blood, which is associated with a higher risk of cardiovascular disease. 

 

This gene mutation may also impact pregnancy, as folate normally helps to support healthy fetal development during pregnancy. Women with insufficient folate intake are at an increased risk of having a child with neural tube defects. 

 

Since folate also supports the nervous system, a gene mutation that decreases its availability may also negatively impact mood. 

Take Action 

Identifying whether or not you have this gene mutation may be important for your current and future health. Increasing your intake of folate-rich foods is a safe way to improve folate status and overall health. 

 

Foods rich in folate include: 

• Beef liver

• Green leafy veggies, especially spinach

• Legumes, especially black eyed peas

• Fotified foods like cereals and pasta noodles

• Rice

• Asparagus

• Brussels sprouts

• Avocado 

 

If unable to meet your daily vitamin B9 needs from diet alone, you may want to consider supplementing with extra folic acid or L-methylfolate. Many fortified foods and supplements contain folic acid, but if you have one of the MTHFR gene mutations you may want to consider choosing a supplement containing the active form, L-methylfolate. This supplemental form of folate is more bioavailable than folic acid. 

 

Remember to always check with your doctor before starting any new supplements. 

Nutrigenomics Testing

Our nutrigenomics test can help identify whether or not you have this gene mutation. Identifying your MTHFR status early on can help manage the risks associated with folate metabolism by helping you take action to improve your folate status.