MTHFR (methylenetetrahydrofolate reductase) is an enzyme that is responsible for multiple functions and essential for methylation. Genetic mutations to this enzyme are not uncommon and cause this enzyme to work at 30-60% efficiency. This is because the folic acid we consume from dietary or supplemental sources has to be "cleaved" from protein carriers into the biologically active form (called folate) in order to be absorbed. It is relatively common (about 1 in 5 Americans, in fact) to have a genetic mutation that causes this process to function at 30-60% efficiency. This means that genetically-affected individuals will not be able to process folic acid at optimal levels, and this can cause a build up of unmetabolized folic acid, which may have adverse health effects. 


This can cause a “backlog” in this essential biochemistry deprives the body and brain of the components needed to drive the chemistry of methylation. Methylation, or the transfer of methyl groups, occurs in our bodies billions of times per day and is essential for health. 


The proper production of proteins, neurotransmitters (dopamine and serotonin), carnitine, and CoQ10 all depend on the proper functioning of this complex pathway. For the body to repair DNA and optimally detoxify itself, methylation chemistry must be up and running.  


What happens when there are issues with this pathway?

Methyl cycle defects can leave one more sensitive to environmental toxins, compromise your defense against infections and complicate proper reading of your genes. Defects in the MTHFR gene are associated with psychiatric diseases, developmental delay, hypertension and cardiac disease, epilepsy, autism, and some cancers. 


What can I do? 

If found to have an MTHFR mutation, it is essential that the functional form of folic acid be used. This functional form is called 5-MTHF, or methylfolate. It bypasses the inefficient MTHFR enzyme and goes directly to work. Intake of the biologically active and functional form of folic acid assures that we are able to maintain a proper supply of vital folic acid regardless of our ability to naturally convert folic acid to its active form.


Proper supplementation may be one way to circumvent some of our genetics. If you are found to have an MTHFR mutation, it is important that you supplement with the biologically active form of folic acid, 5-MTHF. Read more about 5-MTHF and other supplements. 

Methylenetetrahydrofolate reductase (MTHFR)