Gene mutations and thyroid, autoimmunity, Fibromyalgia and Chronic Fatigue


After my daughter was born, I began suffering from chronic fatigue. Even though my thyroid disease was still in remission (I was sure to test it during and after pregnancy) the fatigue became constant. While this is normal for new parents, I knew there must be something I could do to improve the situation. 

I discovered genetic testing and was shocked to find that I am homozygous for a gene mutation (sometimes called an SNP) that makes it impossible for me to ever get enough vitamin B12 through diet or endogenously. This mutation is called MTRR. On top of that, I am heterozygous for a gene mutation that actually prevents B12 from getting into cells. Not only was I fatigued but I genetically could not get enough of the vitamin critical for energy.

While it may appear that your symptoms, like constant fatigue, are because of your thyroid or autoimmune disease or adrenals, a common genetic mutation could also be to blame. Your Chronic Fatigue or Fibromyalgia (or “Adrenal Fatigue”) may in fact be caused by a B12 deficiency.

This mutation becomes even more confusing because upon testing your B12 levels,  you may have adequate or even high B12 so your doctor may not take note of a B12 deficiency or give this vitamin a second thought. Testing is not a good indicator of B12 levels for those with gene mutations. It’s because high levels of B12 may actually suggest that this vital nutrient is not getting into your cells for use. In other words, it’s similar to the T4/T3 dilemma in thyroid disease: you may have high serum B12 levels (similar to T4) but it hasn’t been converted for use (similar to T3).

I suggest all my clients get genetic testing now to determine which mutations they may be homozygous or heterozygous for, educate them on what’s called the “methylation cycle”, and suggest dietary/lifestyle/supplement changes accordingly. While diet changes are critical to improving your autoimmunity,  thyroid disease,  or chronic pain,  addressing gene mutations is exceedingly important.

In my case, I’ll need to take a very specific form of B12 for the rest of my life. But there are several forms of “active” B12, and depending on the other gene mutations you have, you won’t tolerate certain forms of the vitamin. For some people,  MethylB12 can actually make mood disorders worse. Usually these people have a mutation called COMT, but there are others as well.  Understanding your gene mutations as a whole is very important for methylation. This also ties into the MTHFR gene mutation, for those familiar with that. In order to successfully bypass MTHFR, you must start at the top of the methylation cycle and address mutations higher up in the cycle. So if you have discovered you are homozygous or heterozygous for an MTHFR mutation,  supplementing with Methylfolate is not all you must do to bypass this mutation. You must first determine if you have gene mutations that are problematic,  causing you symptoms,  and that are “above” the MTHFR. Then you must use supplements and food to bypass those. All mutations seemingly work together and they must slowly all be addressed.

Improving your methylation cycle is not a quick or easy task.  However, if you do happen to suffer from chronic fatigue, identifying if you have a gene mutation that causes B12 deficiency,  and then finding the right form of active B12 to take (according to your other gene mutations) can help put the fatigue into remission.


Email me to set up a consultation to learn more about simple genetic testing to determine how your genes are affecting your disease/symptoms, and what you need to do about it.


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