But now you ask, what does this have to do with the MTHFR gene? And the answer is… EVERYTHING! You see, each cell’s nucleus contains DNA consisting of smaller particles called chromosomes, which hold all the genes that you were born with. That’s right, your genes are gifts from mom and dad. And the MTHFR gene is just one out of many important genes in the body. The MTHFR gene tells the body to make enzymes to activate vitamin cofactors, also known as methylation. (2) The method of methylation is described as a chemical process where a methyl group (CH3) is added to a substrate in the body. (3)
Once a methyl group (CH3) is added to b-vitamins, the vitamins are now activated and can be utilized in the body for many biological processes like the Krebs cycle, where energy is produced in a cell’s mitochondria. To recap, in each cell there is a nucleus that holds the MTHFR gene that tells the body to make enzymes to methylate/activate b-vitamins to be used in the mitochondria for the energy a human body needs to live.
To be more specific, the following are a few reasons why the MTHFR gene is important for methylation (4):
- New Cell Synthesis and Repair – Methylation is required for DNA and RNA synthesis of new and recovering cells. Without methylation, bone marrow, white blood cells, red blood cells, and tissues of the nervous system would have a difficult time surviving.
- Heart Disease – CoQ10 is a co-enzyme heavily necessary for the heart to function optimally, but without the methylation pathway initiated by the MTHFR gene, optimal function cannot occur, especially when cholesterol-lowering drugs, like statins, decrease the amount of CoQ10 available in the body.
- Energy Production – As stated above without activated b-vitamins, the mitochondria would not be able to produce energy. This is especially important for the heart and skeletal muscle since the main source of energy for these tissues are from the mitochondria.
- Mood - Folic acid is another b-vitamin that is activated by methylation to be utilized in the neurotransmitter synthesis of dopamine, epinephrine, and norepinephrine in the brain, which affect mood.
- ADD – Methylation defect seems to be the primary abnormality in patients suffering from ADD/ADHD. This is mostly due to folic acid not being activated properly for neurotransmitter synthesis as stated above.
- Myelin – This is the protective shield for all of the nervous system. If amino acids are not methylated, then the myelin covering our nerves is not produced adequately leading to demyelination and other nerve disorders.
- Environmental Toxins – Methylation is required to clear environmental toxins from the body via the liver, a vital detoxification organ.
- Pregnancy and Neural Tube Defects– Pre-conception supplementation to support methylation helps to prevent miscarriages as well as activating the vitamin cofactors needed during development to prevent neural tube defects.