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What the MTHFR? Part 3: How to Test for the MTHFR Gene Mutation

An estimated 50 percent of the population has some type of MTHFR mutation that can cause health conditions ranging from cardiovascular problems, to neurologic disorders, and systemic conditions such as nausea, hair loss, immune dysfunction, and some cancers. How do you know if you carry on of the more than 40 known variants of the MTHFR gene?

Genetic testing is required to identify or rule out an MTHFR mutation. Genetic testing analyzes at the two copies of DNA strand that encodes the MTHFR genes. Of the two copies of this gene, one is essentially an “extra” copy that serves as a backup should the other copy fail to function properly. While an error on one copy of this DNA results in decreased methyl group production, it is when there are errors or mutations on both copies that impaired health is likely.

There are two categories of MTHFR genetic testing: Genetic SNP testing and Organic Acid Testing.

Genetic SNP Testing — SNPs are copying errors in the DNA. To make new cells, an existing cell divides in two, but first it copies its DNA so the new cell will have its own complete set of genetic instructions. Mistakes made during this copying process are called SNP errors (single nucleotide polymorphisms). Genetic SNP testing will look for copying errors on the DNA and dig deeper than laboratory studies that routinely look at only one or two of the positions associated with the MTHFR gene mutations — position 677 (the most common) and position 1298. The C677T mutation is commonly associated with cardiovascular problems and the A1298T mutation is associated with neurologic conditions.

These standard tests fall short in that our genes do not work in isolation and there are many other genes along the methylation genetic pathway that affect genetic expression. To get real valuable actionable testing you should have the other genes in the methylation pathway tested (www.23andme.com is the most affordable and complete testing today on the market).

Organic Acid Test — This is a simple urine test that investigates biomarkers from various metabolic pathways that can give a look at several body systems and provide an analysis of any nutritional deficiencies that might exist. Many functional medicine practitioners lean towards organic acid tests because they believe they provide the most useful data for the cost.

The organic acids test is a simple urine test that looks at biomarkers from various metabolic pathways. These biomarkers give an overview of several major systems in the body and an analysis of nutritional deficiencies in the body. Many functional medicine practitioners believe the organic acids test to provide the most useful data for dollars spent of any metabolic test.

When specific organic acids are found in organic acid testing, it may signal a metabolic insufficiency, which could be related to toxicity, a nutritional deficiency, or a hereditary enzyme deficit.

The information provided by organic acid testing can lead to great improvements in numerous other health conditions, including: sleep problems, fatigue, mood swings, weight gain, nausea, joint pain, acid reflux, auto immune disorders, depression, inflammation, headaches, acne/eczema, cancer, and many others.

In our next article, we’ll take a look at other genes that play a significant role in methylation.

Betty Murray, CN, IFMCP, CHC is a Certified Nutritionist & Certified Functional Medicine Practitioner with the Institute for Functional Medicine, founder of the Dallas-based functional medicine clinic Living Well Dallas and Executive Director of the the Functional Medicine Association of North Texas. A master of the biochemistry of the body, Betty teaches her clients how to utilize nutrition for autoimmune diseases, digestive disorders, MTHFR and weight loss. You can find her book “Cleanse: Detox Your Body, Mind & Spirit” on Amazon here.

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