MTHFR Gene Mutation: What’s the problem ?

MTHFR mutations (also called SNPs standing for Single Nucleotide Polymorphisms pronounced “SNiPs”) reduce the activity of the enzyme up to 70% in compound homozygous for C677 and A1298 MTHFR mutations. People with MTHFR mutations may present with elevated homocysteine (an inflammatory marker) levels, which have been associated with inflammation and heart disease, birth defects, difficult pregnancies, stroke, Alzheimer’s disease, Parkinson’s disease and potentially an impaired ability to detoxify.

Nutrient deficiencies in Folate, B6 and B12 have been also associated with elevated homocysteine levels.

Individuals with the MTHFR gene actually have a difficult time processing folic acid (a cheap and synthetic form of folate) that is present in most OTC supplements, added to processed foods and to fortified food. Some research claim that this type of folic acid (synthetic) may even cause a build-up in the body which is toxic. Studies have been done that showed folic acid supplements increased cancer risk… one more reason to ditch processed foods and OTC multivitamins!

Lingering fatigue, fogginess, anxiety, sleep issues and inability to deal with alcohol and other toxins effectively can be a result of an underlying gene mutation like the MTHFR mutation.

Activated folate (named 5MTHF) synthetized by the MTHFR enzyme goes on to give its methyl group (CH3 chemical formula) along with B12 to create Methionine, an amino acid found in animal products. Methionine then will be converted to SAMe (S-Adenosyl-Methionine) the main methyl donor in our body. This process is called “methylation.” It is required for the creation of every cell in your body, so if it is not activated properly, you can imagine what a significant issue it would be. 5MTHF, along with several other nutrients, is also used to create and process neurotransmitters (messengers in the nervous system like serotonin, epinephrine, norepinephrine, and dopamine); create immune cells and process hormones (such as estrogen); as well as to produce energy and detoxify chemicals.

Stress, in all its forms, inhibits this “methylation” – the transfer of methyl from 5MTHF to other substances. So when you are under stress, it is especially important to provide the nutrients necessary for these processes.

To clarify in more detail, the liver is a major processing system, involving countless enzyme pathways, including methylation, which turn one nutrient into another and toxins into non-toxins, preparing them all to be used and/or expelled by the body in our stools or urine. When you drink alcohol, it is your livers job to process it using methylation, but if your nutrients are depleted (for many different reasons including a poor diet) or you are stressed, your liver will not be able to complete the process effectively, leading to symptoms associated with a hangover as an example.

Identifying a potential MTHFR defect is especially important for women of childbearing age, as this defect can increase the risk of many problems in an unborn child. Spina Bifida, a neural tube defect (lack of closure of the neural tube during the maturation of the fetus) is a condition directly linked to the lack of folate during the pregnancy.