What the MTHFR! Should You Be Worried?

by | August 6, 2018

There has been a lot of chatter in parenting groups lately regarding the MTHFR gene and its possible mutations. The slightest mention of symptoms you or your child has experienced and someone is bound to bring up this mutation as a possible answer. While mutations of this gene may cause problems for some people, the discussion around it often causes confusion and fear in those who don’t understand it.


So what exactly is the MTHFR gene?


Our chromosomes are lined with genetic information that is uniformly referred to as our genes. These genes, roughly 20,000 of them, provide instructions to our body to produce different types of proteins that perform different actions. In this case, the gene produces an enzyme called methylenetetrahydrofolate reductase (MTHFR). Enzymes are a type of protein that assists with a reaction. Many reactions in our body require enzymes in order to occur. Due to this, enzymes are often referred to as a catalyst to a reaction. MTHFR catalyzes a reaction to make levomefolic acid, the biologically active form of folate.


What is a genetic mutation?


For various reasons, some of our genes can have a hiccup in their coding, called a mutation. Mutations in genes can be expressed as having little to no effect on the individual, called a polymorphism, all the way through to having life-threatening effects, called a deleterious mutation, depending on the protein they ultimately make. Currently, there are 43 different known mutations of the MTHFR gene, 9 of which are polymorphisms that are not harmful. The other 34 however, may cause anything from a complete lack of MTHFR enzyme production to a production of the enzyme that only partially works, inhibiting one’s body’s ability to produce folate.


Why we need folate.


mthfrThere are nine amino acids the human body is unable to make on its own, termed essential amino acids. One of these amino acids is called methionine. Homocysteine (another non-essential amino acid) is a byproduct of metabolism and is converted to methionine by folate. If folate is not available or is in low amounts, not only does the body not create enough methionine but the level of homocysteine increases.


High levels of homocysteine are linked to heart and vascular diseases, atherosclerosis, high blood pressure and stroke. Methionine is required for muscle production and growth as well as creatinine formation. Additionally, methionine is the only amino acid to contain sulfur, something our body requires so we are able to form and support cartilage. Deficiency in sulfur leads to arthritis and tissue damage.


Deficiencies in folate have been shown to lead to anemia, an increase in cancer risk, as well as fetal neural tube defects in early pregnancy. Neural tube defects are the leading cause of spina bifida and anencephaly among other brain and spinal cord injuries, some of which are life-threatening.


What can people do?


Consume methionine and folate using plant-based foods! You can find methionine in hemp, chia, and sunflower seeds, sun butter, beans, and legumes. Avoid synthetic folic acid in all forms and instead consume romaine lettuce, spinach, asparagus, turnip greens, mustard greens, parsley, collard greens, broccoli, cauliflower, beets, and lentils. If you need to supplement, be sure to choose ones labeled with L-Methylfolate in them. Labels may state L-Methylfolate, 5-MTHF or (6S)-5-methyltetrahydrofolate. These are the biologically active forms of synthetic folate. Anything starting with D or 6(R) are not biologically active and are not easily used in those with a mutation.


With commercial genetic testing now being so readily available and relatively inexpensive, more and more people are finding out that they too have a mutation in this gene. It is important to consult a physician for proper diagnoses as to which mutation you may have and work with a care team to ensure that your well-being is the highest priority.


Don’t forget to Raise Vegan magazine for more great resources.

Tianna McCormick



Categories: News


Leave a Comment