The most common genetic mutation you’ve never heard of

  • Written by Alex Kraft, ND LAc

The internet has turned many of us into part-time researchers, and those with an interest in health frequently end up working with a naturopathic doctor to fine-tune or finally address their health. One of the hot topics on the (medical) Web recently is the DNA mutation called MTHFR.

Think of it this way: Enzymes are like little robots making things happen (or not happen) in the body. The instructions for building these robots are written in the DNA of our cells, and if these instructions are misspelled, the machines never work right. That is essentially the case with this enzyme with a mouthful of a name: methylenetetrahydrofolate reductase (MTHFR for short).

In this case, the machine that is damaged is a process called methylation. When working properly, methylation is involved in critical functions such as repairing damaged DNA, creating mood regulating neurotransmitters, regulating the immune and nervous system and even for proper fetal development. When working improperly, having one copy of the defective gene can reduce the activity of the enzyme (and therefore methylation) by 40 percent, and having two defective copies can limit the enzyme’s activity by 70 percent! Now, that’s a broken robot.

OK, so why is this genetic mutation important and why is it receiving increased attention?

It’s important because the list of conditions potentially affected by faulty methylation is actually quite extensive. Some of the more common health conditions include depression, anxiety, fibromyalgia, chronic fatigue, ADHD, autism, insomnia, forgetfulness and neuropathy. More severe conditions include Crohn’s disease, neural tube defects, cleft palate and recurrent miscarriages. The entire list makes up most of what doctors see everyday.

As always, the question that should be forming in your mind is “what can you do about it?” Well, if one or both of these mutations is present it is not enough to simply eat fortified Cheerios or take Centrum. With the MTHFR mutation, eating a “proper” amount of fortified foods does not change the situation. Also, due to a possible build up of substrates (a chemical backlog), taking the activated form of folic acid (5-MTHF) can either make the situation worse or may be ineffective without other nutrient cofactors. Sometimes diet and lifestyle changes can improve this, but for those with the double mutation, targeted supplementation is necessary.

The good thing about this enzyme defect is that there is a simple blood test to determine if you have the MTHFR mutation, as well as treatments to help mitigate the effects!

There are many genetic tests one could potentially do, but the incidence of this particular mutation ranges from 20-40 percent of the general population. If you’ve got a health condition that doesn’t seem to be responding to the usual treatments, be they pharmaceutical or natural, MTHFR is one of the first genetic tests to consider. Furthermore, if someone tests positive for one or both of the mutations, there is a high likelihood that immediate family members (mother, father, children, etc.) will have the same mutation and could benefit from the same treatment. Lastly, testing for the mutation in a pregnant mother could help prevent the associated conditions from manifesting in the unborn child at all! This becomes a gift for the mother and the baby, and possibly to future generations as well.

If you would like more information regarding MTHFR or other health conditions, contact Health Moves to make an appointment.

Dr. Kraft is a Naturopathic Doctor and licensed acupuncturist at Health Moves 17311 135th Ave NE Ste. C-800 Woodinville, WA 98072. 425.402.9999 or

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