Working on the Root Cause: Genetic Mutations

Having Hashimoto’s is like a big puzzle. You can’t heal until you have all the pieces. At times it is so overwhelming that I can’t think straight and just have to take a step away from it all.

Working on the Root Cause: Genetic MutationsA book I found so helpful was Dr. Wentz’s Hashimoto’s Thyroiditis: Lifestyle Interventions for Finding and Treating the Root Cause. It put a lot of my research into one place.

One of the things I knew I had to do was get some genetic testing done. I was pretty sure that I had the MTHFR mutation from a few of my symptoms, one of which was multiple miscarriages.

While I wasn’t surprised that I did test positive for the MTHFR mutation, I was surprised to have found that I tested positive for a few others! What?? But, that did explain why I did not find methylated vitamins helping me at all. I have a CBS mutation, which if you don’t fix, your body just flushes out the B vitamins. For real.

So, what is the importance of the CBS gene? The CBS gene will convert homocysteine into cystathionine, and this pathway removes sulfur containing amino acids, that is, when the CBS pathyway is clear and working properly. When not working properly the body can have too much sulfur and that can lead to excess ammonia levels.

Interestingly enough, for me anyway, is that the one of the symptoms for excess sulfur and ammonia is the increase of the ‘flight or fight’ feelings. OY. That might explain some of the anxiety I have been dealing with.

Now, if you’re like me you wonder how do you fix an genetic mutation? The short answer being you really can’t fix it, however, you can learn and work the mutation to get your body working the best it can.

For the CBS mutation, that would mean avoiding foods that are high in sulfur that also convert to sulfur in the body. Basically, you want to try and follow a low thiol diet.

You can also help your body flush the ammonia by supplementing with molybdeum. You can find test strips to check your ammonia levels at home.

I have also read the yucca will help your body process the sulfur as well.

Working on the Root Cause:Genetic MutationsI also have a mutation that effects vitamin D absorption.

I am scheduled to have some labs drawn to see where all my vitamins levels are at the moment. This disease is such a process.

Some times it feels like such a burden. Other times I am thankful that I am being given the keys to heal…and to share with others! Being able to help others on their journey is blessing to me.

I am still muddling through all the information. But, I thought I’d share where I am and what I’m learning.

Have you had genetic mutation testing? How are you working on healing your body?



*For the record, my thoughts and advice are only my experiences or what others have allowed me to share. We don’t claim to diagnose, treat or cure.*


  1. Molly Trexler says

    This is my situation, exactly! Have you had any success? I’m on molybdenum and a boat load of B vitamins but not having much success. Really unsure how to proceed with dietary changes.

    • says

      I am feeling a lot better after working with a nutritionist to do a hair test analysis. This is the first time in awhile I’ve had last good health.

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