Little-Known Gene Can Cause Well-Known Problems

By Eileen Wood

Did you know there is a little-known gene found in all of us that directs the body to produce an enzyme called methylenetetrahydrofolate reductase (MTHFR)? If not, please read on. This topic can have huge implications for your clients and maybe even yourself since almost half of the population is affected to some degree.

Folate is vital for the body to make DNA, RNA, and to metabolize amino acids, which provide the body with energy, break down food, and contribute to growth and tissue repair. It is also essential for pregnant women in order to prevent neural tube defects. A critical point to note is that, contrary to common understanding, folate and folic acid are not the same thing. Folate occurs naturally in foods. Folic acid is synthetically made and added to vitamins and food.

In 1998, the federal government mandated the addition of folic acid to almost all of our processed food supply, especially grains and cereals. The idea was to ensure that pregnant women would get enough folate to prevent neural tube birth defects. This campaign seems to have been successful to some degree. But what about for the people with this MTHFR gene mutation, who cannot break down folic acid and convert it to folate? For them, the folic acid becomes a toxin. It eventually results in an abnormally elevated homocysteine level, which can lead to heart attack, stroke, Alzheimer’s, cancer fetal abnormalities, neural tube defects, placental abruption, and pre-eclampsia.

Recently, I was reviewing the history of one of my clients*. She had three babies, all born prematurely at 30 weeks, 30 weeks, and 33 weeks, respectively*. Her first delivery had the further complication of a placental abruption. I asked her, “Have you been tested for MTHFR?” to which she promptly replied, “Yes, I am compound heterozygous."

In this woman’s case, she was diagnosed one year prior to her second pregnancy and began taking folate at that time. She also went gluten-free and stopped eating other grains, especially those enriched with folic acid. It didn’t seem to be enough to prevent her second premature delivery at 30 weeks, but at least she was spared a second placental abruption. Also, her daughter was in the hospital for three weeks fewer than her older brother. Finally, after some additional time of being on a healthy, folic acid-free diet, her third pregnancy lasted an additional critical three weeks.

The MTHFR gene can have either no mutations at all or a couple of them. These mutations are dubbed “variants.” The two most common variants are MTHFR C677T and MTHFR A1298C. Being compound heterozygous means that my client has one of each variant. There are many different combinations that can occur. Typically, the more variants, the more potential health problems.

As Billings teachers, it is important to be on the lookout for the signs of MTHFR variants in your clients when taking their history, especially if they are struggling to conceive or have had repetitive miscarriages. Other red flags include folate deficiency, autoimmune diseases, chronic anxiety or depression, and elevated homocysteine levels.

Testing may also be done simply, at home, by ordering a saliva test such as those from DNA testing companies. One example is 23andMe (www.23andme.com).

Another resource is Dr. Jose Fernandez, an NFP-only physician with JMJ Family Practice which has offices in Kissimmee and Melbourne, Florida. Dr. Fernandez routinely tests for the genetic defect when working with patients who have infertility or frequent miscarriages. “I've been ordering MTHFR in my practice for the last four to five  years. I was prompted to do this because of lectures I had heard detailing this genetic defect as possibly being involved in not only recurrent miscarriage, but infertility in general.”

How common is the defect? Dr. Fernandez says from his patient experience, he finds it in up to 40% of his patients. This number matches the estimates generally cited in the literature.

As Fernandez explains, “As we have long known, some birth defects are preventable by maintaining proper levels of folate and homocysteine. That is particularly important with women who have the MTHFR mutation. Replacement should occur by substituting folic acid supplements with those containing methyl folate or folinic acid instead.  Dosages can begin with 400 to 800 mcg up to 3 to 5 mg. When considering MTHFR genetic variants it is important to also take into consideration other genetic variants. This can become quite complex and either a patient or practitioner should consider consultation with someone well versed in this arena.”

Remember, no natural foods have folic acid in them. When occurring in nature, Vitamin B9 is in the form of folate. However, when artificially supplemented, it is often in the form of folic acid. The bottom line is that this is just another reason to eat wholesome, non-processed foods. Some foods which are naturally high in folate are legumes, asparagus, leafy greens, beans, eggs, beets, citrus fruit, Brussels sprouts, broccoli, nuts and seeds, bananas, avocados, and beef liver.

To reach Dr. Fernandez, call his office at (407) 935-9012 or visit his website: www.jmjfamilypractice.com.

* Note: The client has given permission for her story to be anonymously printed in this newsletter and website.