MTHFR Gene Mutation


Try this word on for size: Methylenetetrahydofolate Reductase. It’s a tough one to say, for sure. Better known as the MTHFR gene, it encodes the protein MTHFR. The job of this gene is to convert folate from one form to another, ultimately converting the “bad” amino acid Homocysteine to Methionine, a “good” amino acid. When the MTHFR gene isn’t functioning properly, homocysteine is not converted to methionine, leaving a high level of homocysteine in the blood plasma. The bottom line is that if the gene is mutated it causes a lack of the enzyme methionine which, in turn, can potentially cause homocysteine levels to rise or fluctuate making the blood clot. It has implications in a variety of multi-faceted ailments and diseases. One such association is FMS (fibromyalgia syndrome).

Let’s Complicate Things a Little

Now, to add to the mix, MTHFR has two different genes that have been identified for mutation with three possible outcomes. Get ready – we have a few more tongue-twisters for you. The possibilities are genes that can be “heterozygous”, “compound heterozygous,” or “homozygous.”

The fact is that the MTHFR gene mutation is 

relatively common in the general population with 44% of people being heterozygous and about 12% homozygous. Compound heterozygous and homozygous MTHFR are most often linked to instances of implantation failure, late term miscarriages, specific birth defects and overall vascular health.

Homocysteine Levels and MTHFR

Homocysteine levels can be affected by any and all of the mutations; however, there is some argument as to whether it is necessary for homocysteine levels to be raised for MTHFR to create medical issues. There are a good number of MTHFR patients who have had to deal with the abovementioned health problems resulting from blood clotting problems and their homocysteine levels were normal. Nevertheless, research indicates that high homocysteine levels and/or incidences of mutations are linked to a higher propensity for a great number of blood-related issues such as thrombosis, hardening of the arteries, stroke and heart attack. Other health issues include Alzheimer’s, migraines, bone marrow disorders, osteoporotic fractures and Fibromyalgia. For women in their child-bearing years, MTHFR mutation can be linked to higher incidences of Down’s syndrome, spina bifida, neural tube defects, trisomy, miscarriage, stillbirth, and several other pregnancy related health issues. All of this is connected to the body’s inability to properly break down and use folic acid (MTHFR mutation).

B Vitamins to the Rescue

The body requires high levels of folic acid, B12 and B6 in order to convert homocysteine to methionine. Vitamin B12 has been used extensively as a treatment for many different diseases and conditions, including fatigue, Alzheimer’s, heart disease and high cholesterol. A deficiency in B12 can manifest as fatigue, weakness, memory loss and problems with the nervous system – all symptoms of FMS. Pyridoxine, commonly known as Vitamin B6, is used to treat anemia and is also used in reducing blood levels of homocysteine. Nerve pain, migraine headaches, muscle cramps, arthritis, dizziness and nausea are other conditions B6 is effective in treating. These, too, are common to FMS.

Most of us associate folic acid with pregnancy and its effectiveness in preventing neural tube defects, spina bifida and other pregnancy related issues. Folic acid is the same as folate and is used to treat certain types of anemia, digestive problems, kidney or liver disease and to establish good neurological health. It, too, has been found effective in converting homocysteine to methionine.

See Your Doctor First!

Today, many doctors prescribe Folgard, a prescription vitamin supplement that contains high levels of folic acid, B12 and B6 to treat MTHFR gene mutation. This combination supplement can be an effective weapon against the fatigue and weakness that is a common symptom of chronic fatigue syndrome and fibromyalgia syndrome. There are many great benefits to taking such a supplement, especially for FMS sufferers. However, before embarking on self-medication, it is imperative screening is done beforehand to ensure the correct levels of each vitamin are administered. Even though these vitamins are excellent and vitally necessary for good health, taking them in an incorrect manner or at an inappropriate dosage can result in side effects that can be unpleasant and in some cases can block the effectiveness of other medications. 

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