If you only know about one genetic mutation, it’s most likely this one. Even LabCorp will run the blood test for it nowadays (although SonoraQuest still won’t, I don’t think — I run the test through a specialty lab for patients who either have no insurance or have to go through SonoraQuest for labs.)

There are two genes that encode for this particular enzyme, and it’s possible to have a deficiency in just one of them, in two, or to have a complex interaction between the two mutations that can lead to even lower enzymatic activity.

What Folate does

Folate or folic acid is found in green leafies, berries, citrus fruits, legumes, salmon, spinach, eggs, and dairy. It is a critical nutrient for pregnant moms to prevent spina bifida. This is because folate is a critical component in cell division. (For this reason, one commonly used chemotherapy agent is called methotrexate, which stops cell division by blocking the activity of folate.)

Folate is also a critical component in a biochemical process called methylation, required for creating most of your neurotransmitters. For this reason, low folic acid can result in persistent depression, anxiety, and behavioral disorders.

Low folate, as well as low Vitamin B12, can lead to megaloblastic anemia.

Folate also reduces levels of an inflammatory metabolite in your body called homocysteine, associated with cardiovascular disease, increased clotting including venous thrombosis, DNA mutations, and even schizophrenia at high levels. 

What MTHFR does

Without functional MTHFR enzymes, even if you’re consuming plenty of folate, you’ll still be functionally deficient. This is because MTHFR “activates” the folate from your food or supplements… so that you can use it in the pathways listed above.

If you have even one of these mutations (and some 30% of the population does have at least one!), it’s a good idea to 1) load your diet with folate-containing foods to counterbalance the inefficiency of your enzymes, and 2) take either a multivitamin that contains the activated form of folate (thus bypassing the step requiring the enzyme), or a supplement of just 5-MTHF. 

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