What is MTHFR anyway?

Representing a classic Dr. Potter Blog:

Five Little Letters Can Spell Big Trouble

MTHFR = Methylenetetrahydrofolate Reductase.

For some reason, you now know that you have a mutation. School bullies may have claimed as much in years past, but now it is confirmed. Does it really matter if it is 677 or 1298 or whatever else the lab included for SHMT, MTR, COMT, or VDR? It just doesn’t make sense! Why did your parents never tell you about your mutant status?

Science is advancing rapidly, especially in the field of epigenetics and metabolic chemistry (also known as metabolomics). As part of this knowledge wave, the gene for the MTHFR enzyme and its significance have come to light in recent years, only growing in their widespread impact each year. If you are one of those who recently learned that you have a mutation or SNP (single nucleotide polymorphism, pronounced “Snip”) in your MTHFR, you probably have a lot of questions about your health.

First, what does this MTHFR thing do anyway? Well, you might say that it plays a big role in a lot of places. This includes your energy production as it interacts with metabolism. It also affects your ability to produce DNA for cell growth throughout your body. As if that were not enough, it participates in fighting off the infections of daily life and is adversely affected by our toxic environment. The extent of MTHFR’s reach may be disturbing your mood now, another area of MTHFR influence as it affects the production of chemicals used by your brain to think and feel. MTHFR is also an equal opportunity SNP, meaning it affects the sex hormones of both men and women. Okay, you get the picture, it is pretty important.

So, what is a MTHFR SNP (“snip”)? This change in your DNA is not like cystic fibrosis or sickle cell, genetic diseases where the presence of the mutation guarantees the presence of the disease. MTHFR SNPs are more like weak links in our metabolic chain. If those links aren’t placed under too much stress and stretched out, not much to worry about. However, the two million dollar questions are “what kind of stress” and “how much is too much?”. Neither question can be adequately answered here, but something can be said in response to the first. Stress which might push the weakness over the edge includes physical stress, environmental toxins, infections, emotional stress, or combinations of these stressors. When the metabolic functioning of MTHFR is disrupted, the other metabolic processes which depend on it are affected leading to further problems.

So what should I do now with my MTHFR mutation? It all depends on you. If you are experiencing chronic fatigue, brain fog, sleep problems, or other seemingly unexplained symptoms, you should probably consult with a physician like myself who is comfortable with MTHFR and its health impact. If not, talk to a doctor about a healthy lifestyle which can hopefully prevent any symptoms from arising (I am happy to provide that preventive service as well). Either way, trust that God’s design including this MTHFR gene is His will for your life and that He will provide for you. Then pray for guidance and healing daily as needed.

Sanctuary Functional Medicine, under the direction of Dr Eric Potter, IFMCP MD, provides functional medicine services to Nashville, Middle Tennessee and beyond. We frequently treat patients from Kentucky, Alabama, Mississippi, Georgia, Ohio, Indiana, and more... offering the hope of healthier more abundant lives to those with chronic illness.

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