The Importance of the MTHFR Gene Mutation. Why Methylation Matters.

The Importance of the MTHFR Gene Mutation. Why Methylation Matters.

The MTHFR gene mutation is frequently measured in the treatment of fatigue. I have seen quite a few posts relating to it in social media. Here is my perspective as a Functional Medicine practitioner. Hopefully this will add some clarity to this important part of our physiology.

MTHFR Gene Mutation: Defined

In the broadest terms, MTHFR refers to a gene that is involved with the methionine cycle, and our body’s ability to activate folic acid, or vitamin B9. We’ll get to why this cycle is important below.

Remember that our DNA is made up of genes, which code for the production of proteins—strings of amino acids linked together and then folded into a 3-D structure. Proteins are structural (organs, muscles) or involved in biochemical processes (enzymes).

Genes are built of genetic bases, which pair on either side of the DNA. One you got string of DNA from your Mom, the other from your Dad. We have some 20,000 genes in our DNA that are required to make a human body work.

Here’s a fun fact. The commonly studied fruit fly, or Drosophila, has 14,000 genes. Go figure.

The MTHFR test looks for a gene mutation known as a SNP, or Single Nucleotide Polymorphism. This happens when one of the bases in the gene is subbed out for another. Simply changing a single base alters the shape and function of the protein that the gene codes for.

If you have a MTHFR gene mutation, it means that this enzyme doesn’t work as well as it could; its function is reduced. But not all gene mutations reduce the function of the gene; other SNP’s can actually increase the enzyme’s activity. It just depends on the gene and the mutation.

Why Methylation Matters

I mentioned the methionine cycle above. This is involved in a critical process known as methylation. Methylation involves the transfer of methyl groups. A methyl group is a small molecule made up of a carbon atom attached to three hydrogen atoms.

I liken methylation to passing a baton in a race: the attached methyl group modifies what it was attached to. I’ll go over the three primary methylation steps below, and you will see why this could be related to fatigue, and why you should know your methylation status.

Methylation step #1: Our DNA is methylated, which influences how it regulates our genes. DNA methylation is a hot, upcoming topic in all of the top science journals. I mean the big biggies: Science, Cell, and Nature.

Methylation step #2: Methylations is important for the production of our neurotransmitters, primarily serotonin. Serotonin is our “everything is cool in the world” neurotransmitter. Heaven knows we could all use a little more of that these days.

Methylation step #4: It is involved in Phase II detoxification. For anyone struggling with a presumed or known toxic state that may be contributing to fatigue, this is an essential part of our ability to detoxify.

Don’t Measure the MTHFR Gene Mutation; Measure Methylation

So do I check a MTHFR on all my patients, seeing that this is so important across so many cellular processes? Generally, no. I don’t like to spend my patients’ money on a test that isn’t going to influence my clinical decision-making.

Instead, I choose to measure Homocysteine. This is all a part of the methionine cycle, and it offers some insight into how well we are transferring these methyl groups. If Homocysteine is elevated, say above 10, it suggests that we are not able to methylate as effectively as we could.

We don’t want to have high Homocysteine for any number of reasons. Elevations have been strongly associated with cardiovascular disease, Alzheimer’s and hypertension.

I personally have a MTHFR mutation in one of me genes, c677t to be exact. My Homocysteine lives at about 14 unless I take my activated folate. This lowers it to the 8 range, which makes me happy.

Don’t Treat MTHFR; Treat Methylation

I recommend checking Homocysteine to know your methylation status for any number of reasons. But save your money on the MTHFR genetic testing. Many people can have a polymorphism in this gene with a normal homocysteine. You’ll want to measure the effect of the altered gene, not the gene itself. It is the effect of the altered gene that we can measure and manage.

You can take activated folate all day long and it won’t change the gene mutation. It will, however, lower your Homocysteine and help to drive these important metabolic processes.

I hope this helps. Be well!



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