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genetic-mutationAmong the nearly 20,000 genes in human DNA is the MTHFR gene, the gene responsible for providing instructions for making methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid (vitamin B9), MTHFR converts it into methyl-folate, which plays a role in just about every bodily process. When this gene is mutated, it doesn’t function properly, which can lead to a host of health problems.

Researchers have linked the MTHFR gene mutation to increased risks of depression, heart disease, colon cancer, Alzheimer’s disease, and other physical and mental health disorders. The mutation occurs because of a defective MTHFR enzyme which causes the gene to produce 30 to 70 percent less methyl-folate than someone without the mutation.

While you may not have heard of this mutation before, it’s actually quite common. In fact, roughly forty percent of people have it. Luckily, there are ways to test for the gene as well as to things you can do to influence your genetics and lessen your chances of experiencing these unwanted health affects. You just need some basic information so you can better understand how to find out if you have it, how it can affect your body, and how you can make changes to your daily routines to combat it.

How do I know if I have the MTHFR mutation?

There are a number of genetic tests available that can help you see if you have the marker and which variations affect you. Some are as simple as a saliva swab. 23andMe offers a mail-in, saliva test for just $199. LabCorp and Quest Diagnostics offer genetic testing with a prescription.

These services will provide you a series of numbers/letters containing tons of information about your genes. You can then compare your results to a typical human genome and identify where you differ to find any genetic mutations. (Try using GeneticGenieLiveWello, or MTHFR Support.)

There is also a great Firefox plugin called SNPtips that will highlights the specific SNPs you have whenever they appear on a website you visit. That way you don’t have to remember your genes or click back and forth endlessly to cross reference.

Why is methyl-folate so important?

Methyl-folate is necessary for a process called methylation which is involved in the modification of heavy metals, regulation of gene expression, regulation of protein function, and RNA processing. These are crucial for:

  • Repairing and regenerating cells, tissue, and DNA;
  • Synthesizing neurotransmitters that influence mood, sleep, behavior, cognition, and memory;
  • Regulating inflammation;
  • And activating/regulating the immune system.

Because your body creates less methyl-folate, some or all of these functions can be affected. Luckily, there are ways to increase your methylation naturally to change how your cells function. Your genes are just one of many factors influencing how your body ultimately performs.

What can I do to positively influence my genes?

Having a MTHFR mutation doesn’t guarantee that you will experience symptoms or develop any of the conditions previously mentioned. There are more than 50 variants of MTHFR, so how it affects you will depend entirely on what variants you have, whether the mutations affect one or both of your MTHFR genes (you have 2,) and the choices you make in how you take care of your body on a daily basis. Regardless of your variant though, all people with the mutation will benefit from these changes:

  • Balance the flora within your digestive system.
  • Get rid of any supplements that contain added folic acid.
  • Avoid processed foods that have synthetic folic acid.
  • Make sure your folate is coming from natural sources, especially dark leafy greens like spinach, kale, bok choy, and Swiss chard.
  • Eat hormone free, grass-fed meats, grass-fed butter, and organic eggs.
  • Avoid aluminum exposure in antiperspirants and cookware.
  • Avoid exposure to common toxins like chemical house cleaners.

For more about specific supplements you can take, first determine which variant you have, and then talk to a specialist who can recommend the best supplement regiment for your unique makeup and overall health.


Like any other part of health: the more you understand your individual body, the better you’ll be able to take care of it. This mutation has been garnering more attention lately, as we’re just beginning to understand the full influence it can have. As we learn more, we can continue to improve our overall physical and mental health.

Dr. Michael Reed is a Nashville based Psychiatrist. Please visit his main website for information about his career.