MTHFR Mutations and Cancer

Methylenetetrahydrofolate reductase (MTHFR) is both an enzyme and a gene. A MTHFR gene mutation impairs how the body metabolizes folate (vitamin B9) and other B vitamins (there are eight B vitamins). People with this problem have difficulty processing vitamin B as well as other people do. In the United States, between 20-40% of white and Hispanic individuals have this mutation. It is relatively rare in black people (1-2%).

How It Affects Health

Our bodies require folate to break down homocysteine. Homocysteine is an amino acid and marker for inflammation tied to heart disease. At high levels, it can damage the lining of arteries. It can encourage blood clotting. This raises the risk of coronary artery disease, heart attacks, blood clots, and strokes. Folate is also essential for making and repairing DNA, supporting methylation (a vital biochemical process affecting energy and detoxification), and generating glutathione (an antioxidant).

MTHFR gene mutations are linked to ischemic stroke caused by a blood clot that cuts off the blood supply to the brain.

A 2021 study showed the mutations were tied to higher breast cancer rates in white and Asian women. It was also linked to more aggressive breast cancers that spread to the lymph nodes in Hispanic women.

A 2022 review associated the mutations with increased risk of autoimmune disease , including multiple sclerosis.

​A 2020 review found "significant association" between the mutations and increased risk of autism affecting communication and behavior.

In 2021 a case report showed how a 32-year-old man diagnosed with major depressive disorder and anxiety and on psychiatric treatment for nearly 3 years was able to stop taking his antidepressant medication. After being administered 15 mg of L-methylfolate, he had complete relief within 4 months. Another study in 2012 found that 92% of patients achieved symptom relief.

Two MTHFR Genes

We inherit two genes for creating MTHFR—one from each parent. A heterozygous mutation means only one gene is mutated, while a homozygous mutation means both are. Two of the most common MTHRF variations are given the cryptic identifiers C6777T and A1298C.

What Causes the MTHFR Defect?

Researchers point to several environmental factors that contribute to MTHFR defects, including exposure to heavy metals (especially aluminum, mercury, and lead), glyphosate, and microbe loss. It is interesting to note a possible correlation with vaccines. Aluminum and mercury have been used and are still being used in vaccines as adjuvants to stimulate a more severe reaction to the vaccine by the immune system.

Folic Acid Versus Folate

Understanding the difference between folic acid (a synthetic vitamin B9) and folate (l-methylfolate is the most bioavailable form for the body) is vitally important. Fortified foods and supplements often contain the synthetic form (folic acid). Natural is always better than lab-created, synthetic forms which can actually cause serious harm. Consumers should ensure their supplements list folate or l-methylfolate instead of folic acid. Natural food sources for folate include leafy greens, avocado, broccoli, asparagus, and legumes.