What is MTHFR anyway?

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.

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    1. Eric Potter

      Thanks for reaching out for answers. The answer depends. At the very least, this places you at risk for medical issues related to the methylation cycle (which includes a very wide range of downstream effects as noted in the blog post). However, if you are eating a healthy diet and avoiding health stressors (toxins, chronic infections, etc.) you may not ever experience any effects from MTFHR. A visit with a physician knowledgeable in MTHFR could be beneficial if you are already experiencing symptoms that might be related to the methylation cycle. If I can be of further help, please reach out again.
      Eric Potter MD

  1. Sue

    Thank you so much for your quick response. Could this have an impact on CFS? Had Epstein-Barr virus about 20 years ago and really haven’t been the same since. Can’t seem to tolerate exercise and still have “crashes.” Recent blood work showed the EBV at 159..out of range, plus a couple of other viruses out of range. I eat a healthy diet.. organic..vegetables and meat.

    Is this all connected? Can brain function be connected as well? Trying to learn about all of this…The MTHFR is all new to me. Thank you… Blessings…

    1. Eric Potter

      Hello again,
      Yes, MTHFR and the other genes of the methylation cycle may play a role in CFS and brain functioning and viral susceptibility. Ben Lynch’s site is a good place to learn about MTHFR, but be warned about 2 things. 1) It is a developing field with uncertainties and some disagreements between clinicians. 2) The complexities make it as much art as science. Finding someone to help you walk through your genetics and symptoms is key. Ben Lynch’s site lists practitioners who have completed his MTHFR courses. I am on that list and provide telemedical care after an initial face to face visit if you are able to travel to Tennessee.
      Eric Potter MD

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