MTHFR Mutation: Improve Your Symptoms

There are trillions of cells in your body, all of which contain segments of your DNA, known as genes. It’s these genes that provide your body instructions on what compounds to make that determine who you are. One such gene is the MTHFR gene, which is in charge of producing the protein that signals the body to produce folate (1).

Folate, also known as B-vitamin 9, is what the body needs to make DNA, modify proteins, and to prevent neural tube defects in unborn children. If you have a mutation in the MTHFR gene, then you have to take extra care of the nutrients you consume for optimal health.  Read below to learn more about the MTHFR gene, symptoms of a gene mutation, and what supplements you can take to detoxify your body if you have the mutation.

Fast facts on the MTHFR gene

If you have a MTHFR gene mutation, then your body will have trouble producing the proteins that signal the body to make folate (1). Along with this important job, your body also needs this gene to produce neurotransmitters in the body such as the feel-good hormone serotonin (2). It also helps produce other neurotransmitters like dopamine and norepinephrine. All three of these compounds help to regulate mood.

What happens when you have a MHTFR mutation?

The most common MHTFR gene mutations are MTHFR C677T and A1298C (3). Each person receives a MHTFR gene from each of their parents. A mutation can occur in either one or both genes. Since the MHTFR gene helps to produce the enzyme that breaks down the amino acid homocysteine, a mutation could lead to high levels of this amino acid. In turn, such high levels could lead to conditions such as (4):

• Birth defects
• Glaucoma
• Mental health disorders
• Certain types of cancer

In addition, a person with a MHTFR gene mutation may develop:

• Anemia, or a lack of healthy red blood cells
• Blood clots
• Strokes
• Heart attacks
• Scoliosis
• Nerve damage, such as in peripheral neuropathy
• Ataxia, which can impact one’s coordination

How can you detoxify your body if you have an MHTFR mutation?

If you have a MHTFR gene mutation, then you will need to follow a strict regimen of supplementation of various compounds. These compounds include (5):

• Folic acid
• 5-MTHF (5-methyltetrahydrofolate)
• Vitamin B6
• Vitamin B12
• Methionine

Folic acid and 5-MTHF are forms of folate to help correct low levels of folate in those with MHTFR mutations. On the other hand, methionine, which the body usually produces when MHTFR breaks down homocysteine, will help lower homocysteine levels in your blood (6). Research shows that vitamins B6 and B12 will also help lower homocysteine levels (7).

Bottom line on MHTFR gene mutation

If you have low levels of folate in your blood, then you may want your doctor to test you for the MHTFR gene. If you find that you have a MHTFR gene mutation, it’s vital that you supplement yourself with the compounds listed above to help replenish folate in the blood and to help lower homocysteine levels. It may be helpful to talk with your healthcare provider to find out how to start treatment if you have a MHTFR gene mutation.

References:

1. Centers for Disease Control and Prevention (last reviewed July 6, 2020) “MHTFR Gene, Folic Acid, and Preventing Neural Tube Defects.” https://www.cdc.gov/ncbddd/folicacid/mthfr-gene-and-folic-acid.html
2. genesight® (accessed January 14, 2021) “Understanding the MHTFR Gene Mutation.” https://genesight.com/genetic-insights/understanding-the-mthfr-gene-mutation/
3. National Center for Advancing Translational Sciences (accessed January 14, 2021) “MHTFR Gene Variant.” https://rarediseases.info.nih.gov/diseases/10953/mthfr-gene-mutation
4. Medical News Today (last reviewed December 12, 2017) “What is an MHTFR mutation?” https://www.medicalnewstoday.com/articles/326181
5. Centers for Disease Control and Prevention (last reviewed February 20, 2019) “Folic Acid: Birth Defects COUNT Questions and Answers.” https://www.cdc.gov/ncbddd/birthdefectscount/faq-folic-ntd.html
6. Kanth, V. V., Golla, J. P., Sastry, B. K., Naik, S., Kabra, N., and Sujatha, M. (2011). “Genetic interactions between MTHFR (C677T), methionine synthase (A2756G, C2758G) variants with vitamin B12 and folic acid determine susceptibility to premature coronary artery disease in Indian population.” Journal of cardiovascular disease research, 2(3), 156–163.
7. Serapinas, D., Boreikaite, E., Bartkeviciute, A., Bandzeviciene, R., Silkunas, M., and Bartkeviciene, D. (September 2017) “The importance of folate, vitamins B6 and B12 for the lowering of homocysteine concentrations for patients with recurrent pregnancy loss and MTHFR mutations.: Reprod Toxicol., 72:159-163.