Breakthroughs with the MTHFR Test

The MTHFR test and the significance of MTHFR had little meaning in healthcare until recently. And while many patients and clinicians are seeing the benefits of undergoing an MTHFR test, it is still not order often enough. The MTHFR test can change the course of care and the decisions that providers make for their patients. In my own experience, I have found the MTHFR test to be a valuable tool that can support the decision making process for treatment. Without it, there is not a full understanding of the influences on one of the most common nutrients, folate (B9).

What Can I Learn from an MTHFR Test?

The MTHFR test provides direct information about the genetic influence on arguably the most important enzyme related to folate. MTHFR, or methylenetetrahydrofolate reductase, is the enzyme responsible for carrying out the last step in production of active folate, or 5-MTHF. (It’s not hard to see why acronyms are used most of the time as long as some of these names are.) Most dietary and supplemental folates, as well as folic acid, have to be converted to active folate. If you are unable to manufacture active folate, the crucial process of methylation is impaired.

The value of the MTHFR test is in helping you understand how your genetic influence the activity of this conversion process. When ordering the MTHFR test, the primary goal is to determine if there are mutations. A mutation alters the function of the enzyme and slows the conversion process. This is generally a concern as the number of stressors we endure increases and we have a higher demand for active folate. In today’s world, the demand for active folate is very high. This means that the results of the MTHFR test are extremely relevant. The more mutations the MTHFR test uncovers, the more difficult it is to produce active folate and the more impact the environmental stressors have.

Understanding the Results of the MTHFR Test

There are two areas that are often assessed on the MTHFR test known simply as 677 and 1298. These are referring to locations in your genome. At each location you have a pair of amino acids, one from mom and one from dad. Depending on the combination of them, you can be said to have a mutation if your profile does not meet the optimal pattern for normal function of the enzyme. If you have one wrong amino acid at 677, you have about 60% normal function of the MTHFR enzyme. If your MTHFR test shows that you have two amino acids that are wrong at the 677 location, then you are down to about 30% normal function.



When the MTHFR test shows that 1298 has the wrong amino acids in place, the outcomes are less significant than 677. However, this does not mean that they do not have profound effects. One wrong amino acid at 1298 and you are at about 80% efficiency of MTHFR. Two wrong amino acids create an enzyme of about 60% efficiency. Now here is the eye opening part. When you combine the effects of 677 and 1298, the results are amplified. The efficiency of the enzyme becomes even less depending on the outcome seen on the MTHFR test. Of course as I mentioned early, this has to be looked at in the context of the environmental influences. Just a short list of these is the amount of toxins in your environment, the foods you eat, especially the standard American diet, the balance of your hormones, and your nutritional status.

Undergoing a MTHFR Test

The MTHFR test is not a difficult test. Samples for assessment are either collected through saliva or blood, with both yielding equally good results. The thing that many of my patients like about the MTHFR test, as well as any other genetic test that we offer, is that it is a one-time test. Your genetics do not change, so once you perform the MTHFR test and work with a qualified healthcare practitioner to help you understand the results, you have a pretty good idea of how to manage it long term. The success in managing the results from the MTHFR test is in large part aided by knowing your folate levels inside of the cell. Since this is much different than a standard folate blood test, I often recommend looking at micronutrient levels. Conveniently, the lab that performs the micronutrient assessment is also the one I use for the MTHFR test. With the simplicity of the test and the ability to literally use the information for a lifetime to help offset chronic disease and feel better, why would you not undergo a MTHFR test?

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