MTHFR Mutations: A Hidden Culprit Behind Breast Cancer, Autoimmune Disease, and Other Conditions

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 to support his celiac disease diagnosis. Ms. Hawe did not 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 face was the first giveaway, with darting eye movements and difficulty focusing. 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.

Only when her son was in his late teenage years that he and his twin were both diagnosed with having an MTHFR gene mutation, Ms. Hawe told The Epoch Times.

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 cannot process vitamin B as well as they should.

Your 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, your body may not process folate well, leading to an increased level of homocysteine. Healthy, intact MTHFR genes and bioavailable folate help regulate homocysteine levels.

Folate is also essential for making and repairing DNA, and it supports methylation, a vital biochemical process affecting energy and detoxification. It helps generate glutathione, an antioxidant that helps sweep away toxins.

How Can the MTHFR Genetic Defect Impact Health?

We all have two MTHFR genes, one from each parent. A heterozygous mutation indicates only one gene is mutated. A homozygous mutation means both genes are mutated.

Two of the most common MTHFR variations are termed C677T and A1298C.

In the United States, approximately 20 percent to 40 percent of white and Hispanic individuals are heterozygous for MTHFR C677T, according to a 2015 article in Circulations. The mutation is less common in black people, affecting 1 percent to 2 percent.

MTHFR is linked to an increased risk of several conditions.

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. Published in Brain Sciences in 2020, the study showed 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.

Women with mutations in both copies of these MTHFR genes had the highest breast cancer risk. Two copies of the A1298C mutation were connected to a greater risk of cancer spreading and higher breast cancer risk.

Autoimmune Diseases

A 2022 systemic review and meta-analysis in Disease Markers showed some MTHFR genetic defects are associated with an increased risk of autoimmune diseases.

Specifically, the MTHFR 677 C/T was a risk factor for Behcet’s disease, a disease of inflammation and swelling in blood vessels, and multiple sclerosis. Additionally, 1298 A/C was a risk factor for multiple sclerosis.

Autism

Autism is a diverse group of conditions affecting communication and behavior, usually appearing by age 2.

A 2020 review and meta-analysis in Research in Autism Spectrum Disorders found a “significant association” between the C677T and A1298C MTHFR gene variations and increased risk of autism spectrum disorder. MTHFR gene mutations can affect methylation processes such as neurotransmitter synthesis. Altered neurotransmitter levels can potentially influence brain function and development.

Anxiety and Depression

In 2021, a case report in the International Journal of Scientific Research and Management showcased 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. After a four-month follow-up, the patient reported complete relief from depressive symptoms.

A 2012 study had previously found that when patients were given 15 milligrams of l-methylfolate a day, as many as 92 percent achieved remission of symptoms within the first six months of therapy.

“The [methylated] B vitamins have reduced anxiety, so we have been able to reduce our dose of SSRI for anxiety and depression, and sleep is improved,” Diane Langdon, an MTHFR patient, told The Epoch Times.

What Causes the MTHFR Defect?

As MTHFR genetic defects gain more attention, patients, physicians, and other 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.

In a mathematical analysis published in the World Cancer Research Journal (pdf) in 2021, researchers conducted hair mineral testing and DNA swabs on 319 patients. They discovered a connection between certain genetic defects, including MTHFR, and elevated levels of heavy metals like lead, aluminum, and mercury.

Folic Acid Versus Methylfolate: What’s the Difference?

Strolling down the vitamin aisle surrounded by boundless bottles can feel confusing. When looking at food nutrition and vitamin labels, individuals with the MTHFR mutation can benefit from understanding the difference between folic acid, a synthetic B vitamin, and methylfolate, the bioavailable form of folate the body can easily use.

Fortified foods and supplements often contain folic acid, a synthetic form of folate. While folic acid is generally fine for individuals 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.

Reposted from: https://www.theepochtimes.com/health/mthfr-mutations-a-hidden-culprit-behind-breast-cancer-autoimmune-disease-and-other-conditions-5494458

Related: MTHFR Protocol - Chris Masterjohn, PhD