The methylenetetrahydrofolate reductase (MTHFR) gene codes for the MTHFR enzyme. The MTHFR enzyme is essential to a process in the body known as methylation. Methylation breaks down the amino acid homocysteine, using methylfolate (vitamin B9), to produce methionine, then glutathione. Mutations of the MTHFR gene affects the body’s ability to methylate, thus slowing down certain reactions in the body.
Every person has their own genetic code consisting of thousands of genes. Each gene has a unique function to code for specific proteins in the body. Genes contain the information to produce hormones, enzymes, and many other molecules. There are two copies of each gene, one paternal gene and one maternal gene.
Epigenetics defines the way certain genes are expressed in the body and how they can be turned on and off. Genetic expression is influenced by environmental exposures (i.e. toxins), infections, lifestyle, and previous or current traumas.
The MTHFR gene is just one of many genes with possible variants that can affect the function of the overall gene. Since all genes in the body work together, having a MTHFR gene mutation does not necessarily mean health issues will occur.
The two main MTHFR gene mutations that have been studied include, C677T and A1298C. Like all genes in the body, both C677T and A1298C have two copies. A single mutation is known as heterozygous, while two gene mutations is known as homozygous. Having one or two genetic mutations at various points throughout the MTHFR gene can decrease the body’s ability to methylate, and thereby breaking down homocysteine.
MTHFR gene mutations can contribute to a variety of medical conditions, including anxiety, depression, elevated homocysteine, cardiovascular disease, sensitivity to certain medications, and intolerance to certain forms of B vitamins. Many practitioners recommend supplementing with high doses of methylfolate (vitamin B9) for those with MTHFR gene mutations. Supplementing with high doses of methylfolate can be helpful or extremely aggravating for certain individuals. Aggravations to supplemental methylfolate occurs when methylfolate jams or speeds up reactions in the body; this can be dependent upon other gene mutations besides MTHFR.
Many people do not tolerate methylated vitamins, including methylfolate and methylcobalamin (vitamin B12). This is why there is no one-size-fits-all multivitamin or B complex. Individuals who are sensitive to methylated vitamins tend to tolerate supplemental folate in the form of folinic acid and vitamin B12 in form of hydroxycobalamin and/or adenosylcobalamin. Schedule an appointment with Dr. Miranda Hill here to identify which vitamins are right for you.
Supplemental folate comes in many forms, including folinic acid, methylfolate, calcium folinate, and methylfolate. Folic acid is the synthetic form of folic acid commonly added to fortified food to prevent neural tube defects. Individuals who have MTHFR gene mutations should not consume folic acid. For those with MTHFR gene mutations, folic acid may contribute to anxiety, depression, mood swings, irritability, ADD, ADHD, and brain fog.
For those with MTHFR gene mutations, supplementing with methylfolate is highly dependent upon many factors in the body. Before supplementing, Dr. Miranda Hill recommends increasing daily intake of natural sources of folate, including dark leafy greens. Like many genes, the function of MTHFR can be impacted by environmental toxins. Addressing underlying toxicities can improve the function of MTHFR without methylfolate supplementation.
