When Alison Hawe took her 9-year-old son to his doctor several years ago, she followed the physician’s advice by giving the boy folic acid because of his celiac disease diagnosis. Ms. Hawe didn’t initially realize the B vitamin could be triggering her son’s erratic, hyperactive behavior.
After investigating, she learned that some patients—especially those with certain genetic variations—react negatively to folic acid supplements and fortified foods.
Her son’s darting eye movements and difficulty focusing were the first clues. He was also impulsive and unable to sit still.
Ms. Hawe eliminated these potential triggers from her son’s diet and supplements for several weeks then slowly reintroduced them. She again observed pronounced changes in her son’s behavior.
What Is MTHFR?
Methylenetetrahydrofolate reductase (MTHFR) is both an enzyme and a gene.MTHFR gene mutation impairs how the body metabolizes folate and other vital B vitamins. People with this problem can’t process B vitamins as well as they should.
The body needs folate to break down homocysteine, an amino acid and inflammatory marker linked to heart disease and many other conditions.
With an MTHFR mutation, the body may not process folate well, leading to an increased level of homocysteine. Healthy, intact MTHFR genes and bioavailable folate help regulate homocysteine levels.
How Can the MTHFR Genetic Defect Affect Health?
We all have two MTHFR genes, one from each parent. A heterozygous mutation is a mutation of only one gene. A homozygous mutation is a mutation of both.Two of the most common MTHFR variations are termed C677T and A1298C.
Cardiovascular Disease
MTHFR gene variations have been linked to ischemic stroke caused by cutting off blood supply to the brain, according to some research. Researchers performed a cross-sectional study on 67 patients with acute cardioembolic stroke stemming from a blood clot in the brain and found that patients with the MTHFR mutation were more likely to have cardioembolic stroke. Published in Brain Sciences in 2020, the study shows that patients with the MTHFR genetic defect also experienced elevated diastolic blood pressure and higher cholesterol.Breast Cancer
A 2021 review published in Genes found that the C677T mutation was tied to higher breast cancer risk in white and Asian women.The A1298C mutation was linked to more aggressive breast cancers that spread to lymph nodes. This was seen in Latin American women with two copies of the mutated gene.
Autoimmune Diseases
A 2022 systemic review and meta-analysis in Disease Markers shows that some MTHFR genetic defects are associated with an increased risk of autoimmune diseases.Autism
Autism is a diverse group of conditions affecting communication and behavior, usually appearing by age 2.Anxiety and Depression
In 2021, a case report in the International Journal of Scientific Research and Management showcases a successful alternative treatment for a 32-year-old man diagnosed with major depressive disorder who had been on psychiatric treatment for two years and eight months.Instead of continuing with an antidepressant, a doctor administered 15 milligrams of l-methylfolate, a form of vitamin B9. After a four-month follow-up, the patient reported complete relief from depressive symptoms.
What Causes the MTHFR Defect?
As MTHFR genetic defects gain more attention, patients and medical experts seek answers.Several environmental factors contribute to MTHFR defects, including exposure to heavy metals, glyphosate, and microbe loss, Dr. William Davis, a cardiologist and microbiome researcher, told The Epoch Times.
Folic Acid Versus Methylfolate: What’s the Difference?
Strolling down the vitamin aisle surrounded by bottles can feel confusing. People with the MTHFR mutation can benefit from understanding the difference between folic acid, a synthetic B vitamin, and methylfolate, the bioavailable form of folate.Fortified foods and supplements often contain folic acid, a synthetic form of folate. Although folic acid is generally fine for people with normal MTHFR genes, it can be problematic for those with MTHFR gene variations.
Pregnant women often receive prenatal vitamins containing folic acid, so those with the MTHFR defect should consult their doctor about choosing a multivitamin with the bioavailable form methylfolate. Patients unaware of their MTHFR status may ask their physician for a blood test to check for an MTHFR gene variant.
Consumers and patients can look for folate or l-methylfolate, instead of folic acid, as the ideal ingredient in foods and supplements.
Natural food sources of folate include leafy greens, avocado, broccoli, asparagus, and legumes.
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