Our genetic makeup is a significant factor in who we are as humans, defining everything from height to hair color. Many genes go into making up the human condition, including MTHFR, or the methylene tetrahydrofolate reductase, gene. Located on Chromosome 1 among 249 million nucleotide base pairs, this gene regulates production of the vital MTHFR enzyme. When there is a mutation, MTHFR symptoms can lead to serious, long term health problems.

An MTHFR gene mutation can alter the way important nutrients are converted into active vitamins and minerals in the body. It can also alter hormone balance, cholesterol levels, digestion, brain and endocrine functions, and more.

What Is the MTHFR Gene?

In basic terms, the MTHFR gene stimulates production of MTHFR, an enzyme that adds a methyl group to folic acid in order to facilitate conversion into vitamin B9. Without it, the methylation of folate and folic acid cannot occur properly.

Over half the population has a normal MTHFR gene that allows for the standard production of enzymes, but approximately 30 to 50 percent of individuals carry one of several mutations, generally MTHFR C677T or MTHFR A1298C. While a majority of those affected do not show symptoms and are able to live normally, some suffer numerous physical risks related to the limitations of MTHFR enzyme production. In those with mutations, enzyme efficiency can drop up to 70 percent, severely limiting the body’s ability to convert folic acid normally.

MTHFR Gene Mutations

While MTHFR gene mutations don’t always react in the same way from one person to the next, those who suffer from poor MTHFR enzyme efficiency are at risk for numerous serious diseases.

One of the active forms of folic acid, known as 5-MTHF, is largely responsible for breaking down homocysteine. While this substance occurs naturally, it is toxic in high doses and can damage arteries and cells throughout the body. High levels of homocysteine can put patients at significant risk for strokes, heart attacks, and other cardiovascular diseases, as well as macular degeneration, Alzheimer’s disease, and even cancer.

In addition to these critical conditions, MTHFR can also cause folate deficiency. While seemingly minor compared to the other serious issues related to high levels of homocysteine, folate deficiency can cause irritability, mood swings, poor growth, fatigue, and digestive problems. Patients may also experience anemia and low levels of white blood cells.

MTHFR Symptoms

While numerous conditions can be connected to MTHFR gene mutations, other factors may be at play. Medical professionals have noted several symptoms to watch for, including:

  • Cardiovascular problems
  • Autoimmune disorders
  • Folate deficiency
  • Central nervous system disorders
  • Gastrointestinal issues such as irritable bowel syndrome
  • A history of anxiety or depression
  • One or more miscarriages

If you have one or more of these side effects, an MTHFR test can determine the presence of a genetic mutation. A simple screening process performed using saliva, blood, or an oral swab can lead to a true diagnosis for those experiencing unpleasant symptoms.

MTHFR Treatments and IV Therapy

If you believe you are suffering from a MTHFR gene mutation, a proper diagnosis and professional treatment can make a significant difference in your quality of life. At Revitalogy, you can seek the personalized assistance you deserve. Our AGEOGRAPHY lab work allows you to learn about the present state of your body, testing everything from the MTHFR gene mutation to the length of your telomeres.

As a medical clinic with a focus on renewed vitality, it is our mission to evaluate your overall health in order to create a custom approach to treatment. Our advanced diagnostic testing can get to the root of your problems, screening for numerous disorders and genetic mutations that can affect mental, emotional, and physical conditioning.

For those who test positive for MTHFR mutations, our targeted Pro-Vitality therapies work to counteract some of the negative symptoms of mTHFR, while reintroducing important vitamins into the body. Performed in conjunction with RevitalIV, South Florida’s Premier IV Hydration Center, our custom IV treatments can assist in restoring energy, reversing folate deficiencies, and stimulating enzyme production.

If you are struggling with amy of the above mentioned symptoms, you may be among the millions suffering from a MTHFR gene mutation. Contact Revitalogy at 561-406-2269 or visit us online to learn more about our diagnostic tests, IV therapies, and more.


Dr. Matteo Rosselli, D.O.

Dr. Matteo Rosselli, D.O.

Medical Director and Co-Founder of Revitalogy

An expert in the field of pro-vitality medicine, Dr. Rosselli’s priority is to provide the safest and most effective strategies for slowing the aging process and restoring the youthful vitality that decreases as we age. He believes that the integration of revolutionary medical research with his patients’ individual health profiles is the most optimal method for prescribing anti-aging medicine programs that will produce effective results.

His revolutionary syntheses of Endocrine Optimization, IV hydration, and Physician-Formulated Vitamin Supplementation, have been drastically reducing age-related disease and symptoms while restoring a youthful and beautiful energy to his patients.

See Dr. Rosselli’s full Bio Here.

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