MTHFR What!?

What is MTHFR?

MTHFR stands for methylenetetrahydrofolate reductase, which is why it is called MTHFR. It is a genetic mutation, and approximately 30% of the population worldwide has it. The mutation affects the ability of the body to turn vitamin B12 and folate into forms the body can utilize. Useable forms of B12 and folate are called methylcobalamin and methylfolate respectively. The body needs methylcobalamin and methylfolate to make the compound glutathione. Glutathione is one of the major antioxidants in the body. Without it, expressions of abnormal genetic DNA are more likely. Meaning, if you have cancer, heart disease, or diabetes in your family history, but don’t have an effective way of detoxing your body, you are more likely to express the diseases of your ancestors. Chronic disease, chronic stress, Tylenol, steroids, injuries, genetically modified foods, artificial sweeteners, overuse of antibiotics, and environmental toxins all strip the body of glutathione. And if the body is already not making enough glutathione due to the MTHFR mutation, disease is even more so likely.

NOTE: While folate and folic acid are both forms of Vitamin B9, they are not equal. Folate occurs naturally in foods such as dark green vegetables and dried legumes. Folic acid is a synthetic form used in most supplements and fortified foods. Folic acid competes with folate for binding sites in the body, keeping the body from absorbing natural forms of folate. Folate is preferred, especially when the body is unable to convert folic acid into folate, as in the case of an MTHFR mutation.

What are the various MTHFR mutations?

There are many different combinations of the MTHFR mutation, and science is still trying to understand them all. The reason for variations is how the genes are passed on from each parent. If both parents pass on healthy genes, then the child won’t have a mutation at all. If one parent passes on mutated genes, and the other parents passes on healthy genes, different variations occur. If both parents pass on mutated genes, different variations also occur. The two more common mutations that we know of are the C677T mutation and the A1298C mutation. These note where the mutation is on the gene. The various combinations are homozygous, heterozygous, and compound heterozygous. A homozygous combination occurs when both parents pass the same gene to the child, either both on the 677 mutation or both on the 2398 mutation. A heterozygous combination occurs when one parent passes on the 677 mutation or the 1298 mutation, and the other parent passes on a normal gene. A compound heterozygous combination occurs when one parent passes on the 677 mutation, and the other parent passes on the 1298 mutation. Depending on the combination of the mutation, it affects the body’s ability to convert B12 and folate into glutathione by upward of 20-70%. For more on this, click here.

What are symptoms of MTHFR? 

Symptoms of the MTHFR mutation include multiple miscarriages or stillbirths, preeclampsia, newborns with neural tube defects, tongue/frenulum ties, depression, anxiety, bipolar disorder, autism and other learning developmental problems, ADHD, Down syndrome, spina bifida, thyroid disease and other autoimmune disorders, migraines, hormonal problems, diabetes, chronic fatigue syndrome, irritable bowel syndrome and other digestive issues, high cholesterol and heart disease, and stroke.

How can I find out if I have MTHFR?

A medical practitioner can check for the MTHFR mutation from a blood draw. Talk to your doctor to see if you have a set of symptoms that would warrant laboratory testing. They would test for MTHFR (the mutation itself, including the mutation combination), B12 and folate levels, glutathione levels, and homocysteine levels (increased homocysteine levels are a sign that the body needs to remove waste).

What should I do if I have MTHFR?

Management of MTHFR should be a plan tailored to your specific needs determined by you and your doctor. On a basic level, you can supplement with B12 and methylfolate. While most people who have MTHFR benefit from taking methylcobalamin (methylated B12), if you have any other genetic mutations, it can increase anxiety to take methylcobalamin due to overmethylation, and you may need a different type of B12 (such as acetal B12). In addition, consume more natural forms of B12, folate, and vitamin B6 (also important in the process of detoxification), such as beans, lentils, asparagus, broccoli, and avocado. Treat digestive problems, such as leaky gut syndrome and irritable bowel syndrome, so that your body can absorb the nutrients necessary to promote detoxification. Be cautious when taking medications or other products that strip the body of glutathione. Detox by exercising, drinking water, and consuming fresh vegetables and fruits with antioxidants in them. Get adequate sleep.

MTHFR isn’t damaging as long as you know you have it. There are plenty of ways to manage it. Depending on the scenario, some people ask whether it is better to know a diagnosis or not. In the case of MTHFR, it is better to have more information.

At Hopewell Family Care, we carry methylcobalamin and methylfolate alone and in combinations from Metagenics, Thorne, and Klaire. NuMedica has a natural neuromethylation cream for children to rub on their feet, which we also carry. Check if your vitamins contain folic acid or folate. If they have folic acid, consider switching to folate, whether you have an MTHFR mutation or not.

Jaimeé Arroyo Novak, FNP