If you’ve never heard of MTHFR mutations, don’t worry: Most people know little or nothing about them. But even if the name is unfamiliar, you may know about some of the physical and mental health conditions that can be associated with them, including heart disease and depression.
MTHFR stands for methylenetetrahydrofolate reductase. This enzyme helps your body catalyze an amino acid known as homocysteine. The MTHFR gene directs the action of this enzyme, but if the gene has certain mutations, it can prevent the MTHFR enzyme from functioning properly.
Primary care physician Deborah D. Viglione, MD, of Living Waters Regenerative Medicine Center in Gulf Breeze, Florida, takes pride in her knowledge of MTHFR and its potential impact on patients. She first focused on it in the early 2000s while working with autistic patients. Since then, she has devoted herself to helping people affected by MTHFR mutations.
Here, she shares some important information about MTHFR, including insight into how you can find out whether you’re positive for MTHFR.
Contributor to chronic disease
Mutations to the MTHFR gene are fairly common, affecting 10% to 25% of people in the United States. MTHFR mutations can increase a person’s risk of a variety of health conditions.
Because of the ways the MTHFR enzyme affects the body, many people with MTHFR mutations experience chronic illness. Here’s why: When your MTHFR enzyme doesn’t function properly, the amino acid homocysteine can accumulate in your blood at higher-than-optimal levels.
High homocysteine levels — known as homocysteinemia — may contribute to conditions such as:
- Anemia (abnormal levels of hemoglobin in the blood)
- Attention deficit hyperactivity disorder
- Blood clots
- Developmental delays in babies and children
- Heart attack
- High blood pressure
- Peripheral neuropathy (nerve damage)
- Some types of cancer
Homocysteinemia also may increase the risk of some types of birth defects, such as spina bifida and anencephaly, which is a brain and skull anomaly.
Understanding MTHFR’s impact on you
Genetic testing can determine whether you have a MTHFR mutation. You have two MTHFR genes — one from your mother and one from your father. A MTHFR blood test looks at these genes, checking for mutations in one or both of them.
Dr. Viglione may recommend MTHFR genetic testing if you have any of the chronic health conditions listed above, or if blood tests have shown that you have higher than normal levels of homocysteine in your blood. She may also advise having MTHFR testing if you’re a woman planning a pregnancy, because having an MTHFR mutation can increase the risk of birth defects in a baby.
If you have one or two MTHFR mutations, Dr. Viglione may suggest taking nutritional supplements, including folic acid and B vitamins, which help break down homocysteine. She also works with you to create a personalized treatment plan that addresses any chronic health conditions you may have that are related to your MTHFR mutation.
Get tested for MTHFR
A MTHFR genetic test is a simple blood test. To schedule a consultation about MTHFR and genetic testing, call our office at 850-290-4806.