MTHFR – What it is and Why You Need to Know About it

MTHFR, Methylenetetrahydrofolate reductase, is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene (1).

Every human has two copies of this gene, one from each parent and some, in fact, many ( an estimated 40% (2), have a gene mutation.

I have it, my husband has it, and so does our son.

And while this gene is one that’s being spoken about more and more, and yes, it is important to know whether or not you have the mutation, it’s equally important to know that it’s not to be confused with a diagnosis.

The way in which one of my clients interpreted her finding out that she, too, has the mutation.

She was shaken up because they way it was presented to her was that she’d been diagnosed with something awful, something she could not do anything about, since it had to do with her genes.

Once we talked through it, she began to feel much better and realize that this is simply a piece of of information that, once you have it, you can be proactive in making positive changes to support your body in becoming and staying its healthiest.

In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females. Females have two copies of the X chromosome, while males have one X and one Y chromosome (3).

Genes are contained in chromosomes, which are in the cell nucleus.

Our bodies are made up of trillions of cells, each containing your genes, which you inherit from your biological parents. You get one copy of each gene from the egg and one from the sperm to make a pair. The pairs divide and copy to create your estimated 20,000 genes (4) .

MTHFR is just one of them.

A gene is the basic physical and functional unit of heredity, made up of DNA. Some genes act as instructions to make molecules called proteins, which are needed for the body to function.

Many genes do not code for proteins but help control other genes.

The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase, an enzyme plays a role in processing amino acids.

Why do we need to know whether or not this is relevant to our own personal health?

Because if we do in fact have this mutation, we can take simple steps to ensure that it does not eventually lead to an otherwise preventable health concern.

With a simple blood draw ordered by your doctor at the lab or now, even a do it yourself kit at home using saliva sample, a cheek swab, or a finger-prick blood drop test, you can determine whether or not this is something you need to factor in to your overall plan for optimal health.

If you do find out you have this mutation, your functional medicine doctor may first run a simple blood test to see if you have high homocysteine levels.

( Homocysteine is an amino acid. Vitamins B12, B6 and folate break down homocysteine to create other chemicals your body needs. High homocysteine levels may mean you have a vitamin deficiency (5).)

MTHFR gene mutations are common and normal, and not a disorder. Most people with MTHFR gene mutations do not really need any treatment unless it causes homocystinuria, which is rare and / or symptoms of folate deficiency (6).

If you do have the mutation, your body may need a bit of assistance with the methylation process, a chemical modification of DNA and other molecules that may be retained as cells divide to make more cells. When found in DNA, methylation can alter gene expression (7).

The methylation cycle is key in the transfer of the fat-soluble form of folate into the brain, as well as being key in the formation of the important neurotransmitters: epinephrine, norepinephrine, dopamine, serotonin, and melatonin (8).

If a body is not methylating properly, neurotransmitter imbalances can occur, resulting in any of a number of psychological conditions and neuro developmental delays. Inherent impairment of the body’s detoxification processes leading to the buildup of toxic metabolites and the accumulation of environmental toxins (such as heavy metals) may also result. (8)

Here’s where this having this intel into your own body becomes exciting: you can empower yourself by making dietary and lifestyle changes to decrease or eliminate your chance of developing some of the health challenges that can be associated with MTHFR mutation down the line.

Your functional health provider can help you determine whether specific supplements may be helpful; my own regime includes a Methylation support in addition to a personalized multivitamin ( SNIP ) which include folate (NOT folic acid, which is a synthetic form of folate that’s added to fortified foods.)

But first, start with the lifestyle and food choices you can make on your own; all of which would only support you whether or not you do have this mutation.

Reducing oxidative stress and inflammation by increasing intake of local, in-season organic veggies and fruit, upping your intake of organic plant fats like avocado and olive oil, choosing properly sourced (grass fed and finished, or wild) proteins, avoiding seed oils and refined carbohydrates, moving your body more often, getting outside and bringing down the time on your screen are common sense examples of things we can do now even before we start down the road of working with anyone.

“Trust yourself and your body’s innate wisdom rather than relying solely on the healthcare system.” – Dr. Casey Means, MD.

The decision to find out if you have the MTHFR mutation, or any genetic testing for that matter, needn’t be a source of fear; rather, it’s knowledge you can use to your highest interest.

Nothing you can do about your genes, true.. but much to do with epigenetics; the sooner we begin to listen to our body and trust, the sooner we begin to create within and collectively.

 

(1)https://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase
(2)https://drwillcole.com/brain-health/do-you-have-the-gene-mutation-that-affects-40-of-the-world
(3) https://medlineplus.gov/genetics/understanding/basics/howmanychromosomes/
(4) https://www.parsleyhealth.com/blog/mthfr-mutation/
(5) https://my.clevelandclinic.org/health/articles/21527-homocysteine
(6)https://www.medicinenet.com/what_does_the_mthfr_gene_mutation_cause/article.htm
(7) https://www.genome.gov/genetics-glossary/Methylation
(8) https://www.nbwellness.com/library/methylation-health-disease