The MTHFR gene is responsible for making a functional MTHFR enzyme. This enzyme is a key regulatory enzyme in the metabolism of folate, and the gene itself has a very important and complex role. If the MTHFR gene is mutated, the MTHFR enzyme will not function properly.
A MTHFR mutation inhibits the body’s ability to methylate, or convert pharmaceutical folic acid into Methylfolate. Methylfolate is the active and usable form of folate, and if the body is not getting enough of this folate at the cellular level, it leads to deficiencies and a multitude of health issues.
Folic Acid is actually a synthetic form of folate, produced in a lab and not found in nature. The conversion of Folic acid into the usable form of methyl folate requires a complex 4 step process, not properly preformed in individuals with a MTHFR mutation.
The most common MTHFR gene mutations are found at position C677T and/or position A1298C on the MTHFR gene located on chromosome 1, and passed from biological parents. So each individual can have UP to 2 copies of the Mutation:
Homozygous Mutation: 2 affected genes on either the 677t or the 1298c position. MTHFR enzyme will only run at about 10% efficiency (or 90% impaired).
Compound Heterozygous Mutation: 1 affected gene on the 677t gene and 1 mutation of the 1298c gene. This combination can be more severe, due to the fact that both gene defects are present. 98% of autistic children have this mutation.
Heterozygous Mutation: most common and less severe of all the mutations. It means there is 1 normal gene and 1 mutated gene. The mutation will either be on the 677 or the 1298 position. The MTHFR enzyme will run at about 40%-60% efficiency compared to normal MTHFR enzymes.
677t Mutation – This mutation is most commonly associated with heart disease, heart attack, stroke, blood clots, peripheral neuropathy, anemia, miscarriages, tongue tie, congenital birth defects, to name a few.
1298c Mutation – This mutation is most commonly associated with chronic illnesses, such as; depression, fibromyalgia, chronic fatigue syndrome, migraines, Irritable Bowel Syndrome, Memory loss, Alzheimer’s and Dementia, OCD, Bipolar, Schizophrenia, to name a few.
The Methylation Cycle is a major biochemical pathway in our bodies that contributes to a wide range of crucial body functions, such as detoxification, immune function, mood balancing, and more. When the MTHFR pathway is impaired by mutations, other pathways are also affected, and the entire body, can suffer the consequences of “oxidative stress” (toxin buildup). Other pathways do exist for these metabolic processes, however they use more energy and create more “cellular waste” than necessary..causing more “oxidative stress”.
Pathways affected by MTHFR
1) Glutathione is the key antioxidant and detoxifier in our body, so when its production is hindered, one is more susceptible to “oxidative stress” and less tolerant to toxins, like heavy metals. With age the accumulation of heavy metals and toxins grows, and may lead to a multitude of symptoms including chronic disease, rashes, premature aging, depression, and anxiety, to name a few…
2) A lack of methylfolate also hinders the multi-step process that converts homocysteine, to methionine. Homocysteine, then builds up in the bloodstream, and reduces the amount of methionine. Methionine is necessary to produce proteins and assist in breaking down histamine, serotonin, and dopamine.
MTHFR and Pregnancy
Elevated homocysteine levels caused by MTHFR mutations can lead to formation of blood clots. This is especially a cause of concern during pregnancy, and can lead to miscarriages, clotting poroblems and fertility challenges. There are various forms of MTHFR mutations, and some are more serious than others during a pregnancy, check with a provider for medical counsel on this topic. Women who experience RPL (repeated pregnancy loss) will be tested for MTHFR.
Elevated homocysteine is also frequently found in pregnant woman who experience preeclampsia, placental abruption, giving birth to low-birth-weight baby (IUGR), and neural tube defects (an abnormality of the fetal spine or brain). So it is extremely important to make sure homocysteine levels are normal during pregnancy, in the presence of MTHFR.
Conventional protocol for MTHFR mutations, especially during pregnancy is a mega dose of folic acid, usually around 5mg. As previously mentioned this simply accelerates “oxidative stress” and further complicates the problem. MTHFR mutations are not a “one size fits all”. With a MTHFR mutation, stay away from folic acid. Educate yourself, eat a Clean Diet, Sleep Well, Exercise, get fresh air and release stress. See your favorite MTHFR educated provider for the best advice on supplementing if necessary.