MTHFR: What Does it Mean For You?


The letters MTHFR may make you do a double take — and maybe you should, but not for the reason you might think. The Human Genome Project, completed almost 20 years ago, was an extensive international research collaboration that provided major insight into the human genetic blueprint, and as a result, the MTHFR gene mutation was discovered. To try to put it simply, the MTHFR mutation is a genetic defect that affects methylation in our DNA and often inhibits the ability of our bodies to break down certain foods. This can pose immediate or long-term effects, potentially leading to a wide variety of health issues. Though the process of recognizing and treating this issue is still relatively new, Dr. Pablo Tagle III, with the Institute for Functional Health of McAllen, is addressing this issue on an individual basis through a comprehensive wellness plan that will not only focus on pain but can dramatically improve your overall health.

One of the main issues Tagle says he sees with the MTHFR defect is that poor methylation transpires into poor digestion of certain types of foods, especially those with B vitamins. When these vitamins are not properly broken down, those affected will notice a general lethargy, often paired with recurring stomach issues.

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“A lot of people have different types of issues with the MTHFR,” he said. “Not just digestion or energy, but it could also be cascading to adrenal issues or cardiovascular disease.” In terms of recognizing the problem, Tagle noted that the easiest way to know for sure is to do a DNA test. However, that is not widely offered. Instead, if someone is following a healthy diet and has no other issues that have been found, like thyroid or liver problems, it would be reason to suspect that the MTHFR mutation might be the cause of the problem.

On a technical note, the MTHFR gene provides the body with instructions for making the enzyme methylenetetrahydrofolate reductase, which plays many important roles in our health. This enzyme facilitates methylation, which switches genes on and off and repairs DNA, aids in the production of various neurotransmitters and hormones, and naturally detoxifies the body, eliminating heavy metals and toxins through the GI tract. The MTHFR enzyme also forms proteins by converting amino acids that are considered the building blocks of proteins and keeping cholesterol levels balanced. Methylenetetrahydrofolate reductase also carries out chemical reactions in the body that help to process folate, a vitamin that is necessary for numerous bodily functions.

Though the mutation cannot be altered or corrected, Tagle uses natural treatments that can provide very real results. After first going through a detoxification process, one of the most helpful treatments is to consume methylated forms of B vitamins such as B6, B9, and B12 that have already been processed and are ready to be used by the body. Folate specifically, rather than synthetic folic acid as a substitute, can help with methylation and improve symptoms. For those with the MTHFR genetic mutation, it is believed that folic acid is not a suitable substitute and may even worsen symptoms. Incorporating a methyl folate supplement as well as increasing your intake of high-folate foods like beans and lentils, leafy green vegetables, avocado, oranges, mangos, and others is the most beneficial way to up your folate absorption. Healthy fats, chia and flax seeds, and bone broth are also recommended, and inflammatory foods like gluten, sugar, trans fats, and processed meats should be avoided.

Currently, researchers believe that anywhere from 30 percent to 50 percent of the population may carry a mutation in their MTHFR gene. This mutation is inherited from parent to child and is believed to contribute to the development of diseases like ADHD, Alzheimer’s, autoimmune disorders, and more. It is important to note, however, that these diseases can still develop without the presence of the mutation. While MTHFR mutations don’t always cause noticeable symptoms, it is estimated that for about 14 percent to 20 percent of population, this genetic mutation can lead to serious long-term health problems.

“It is not something that is very well known as to why it happens,” Tagle said. “In general, with the MTHFR mutation, I think there is not a whole lot of knowledge in the general medical community, and they’re just doing a lot more research. It coincides with exactly what we do with our functional health and functional wellness.

“Us knowing how to treat this is helping a lot of patients with these issues and giving them a better quality of life.”