Understanding MTHFR: Separating Science from Speculation

Understanding MTHFR: Separating Science from Speculation

By Robert R. Beltran, MD, PharmD, FACS
Founder, Recomnd Nutrition 

This is another area of Social Media where the facts are deceptive, misleading and inconsistent with known science and clinical medical considerations and applications. It is a very complex area where biological science and clinical medicine cross paths and created a lane for a false and self-serving narrative by shrewd and less than honorable scientists and business people. When I see repeated comments like “your doctor doesn’t know”, “your doctor didn’t know this”, I feel an obligation to defend the honor and reputation of so many amazing physicians who work their butts off and save hundreds of lives!

I’m going to make this explanation as straight forward as I can.

This all emanated when the science of DNA analysis, genetic sequencing and genetic messaging was understood and confirmed. It was found that in certain individuals a “methyl” group was absent from part of the DNA structure. This is identified during DNA methylation analysis. This absence affects gene regulation and impairs the enzyme MTHFR. This enzyme is responsible for numerous important cellular functions and potentially affects genetic expression. It also is responsible for the active form of folic acid. Vitamin B-12 is also important in this process.

As a result of this, an entire industry has evolved known as “DNA Methylation Testing”. It is being used for:

1. Epigenetic Research: but there are far too many environmental and internal factors to consider at this time that allows for any determination of benefit.

2. Cancer Diagnosis and Prognosis: shows promise but “methylation markers are not definitive stand-alone tests for diagnosis and prognosis”.

3. Disease Risk Assessment: “MTHFR variants, on their own, are not proven causes of depression, fatigue, or “brain fog””. “Not recommended for cardiovascular risk assessment because there are too many other factors in these patients to assess such as smoking, obesity, lipids, diabetes. Essentially predictive gains over standard risk factors are small.”

4. Pharmacogenomics: “is being used in specific oncology contexts, but not for routine drug dosing or effects in most fields”.

5. Aging Assessment: “Epigenetic clocks are valuable “research” tools, but they are not validated to guide individualized treatment or to predict personal lifespan with certainty because of a myriad of environmental and internal factors contributing to this outcome”.

In conclusion the consensus of medical-scientists who are experts in this field state “routine MTHFR testing is not recommended for evaluating fatigue, mood, brain fog or cardiovascular risk. Be cautious about over-interpreting consumer DNA methylation tests for diagnosis, risk or aging”. They, the true experts, suggest that if you have concerns about folate or vitamin B-12 deficiency contributing to symptoms of fatigue, mood instability including depression or “ brain fog”, you should either consult with your physician, take OTC folic acid and vitamin B-12 or both. MTHFR deficiency is common, 30-40% of the population have this and its variants. But only a very small percentage of people with this enzyme deficiency are symptomatic in any manner.

I hope I have clearly delineated that clinical medicine applications of routine DNA Methylation testing is unproven for the clinical medical conditions that are being widely advertised in Social Media. The information being presented to the public is misleading, deceptive and used to create a narrative that is self-serving. As you might expect, much of the research concluding favorable benefits for DNA Methylation testing is supported by Biomedical companies that perform the biochemical analysis testing including Illumina and Thermo Fisher Scientific. This is an all too common concern involving the pharmaceutical and biomedical industries pertaining to ethics, credibility and integrity blurring the line between science and facts and economics. It would be so much better for everyone if the studies involved were truly independent.

In conclusion, these companies are talking way above the head of the average citizen. They are doing this to impress you and scare you. Their primary purpose is to harness you, use all kinds of fancy scientific and medical terms and sell you supplements and specific types of hormone replacement therapy including TRT. I have no personal or professional issue with supplements one way or the other, except to say it is a well known fact that 50% of nutraceuticals have no subjective or objective benefits. So we have ask ourselves, is this supplement helping me in any manner? 25% of nutraceuticals are tainted with unlisted boosters, especially those from Asian and Eastern European countries. So buyer beware and do your homework.

I have major concerns about the use of HRT, especially TRT, especially when it is being recommended by non-experts. TRT is going to compromise many lives and has the potential to shorten many lives. A physician “who does know”!

Robert R. Beltran, MD, PharmD, FACS
Board Certified, Otolaryngology–Head and Neck Surgery
Board Certified, Facial Plastic & Reconstructive Surgery