The MTHFR Connection

I’ve been thinking a lot lately about mutations in MTHFR genes and the implications on endometriosis. (Yes these are the things I think about, LOL).

The MTHFR gene is the abbreviated version of the LONG word: methylenetetrahydrofolate reductase. It is an enzyme that helps activate folate (also known as folic acid and vitamin B9) in your body.

Activated folate (or 5MTHF) takes part in a process called methylation. This process is required for the creation of every cell in your body. If your body is not activating folate to 5MTHF, then processes are disrupted and big issues can arise.

5MTHF is used to create and process neurotransmitters (serotonin, epinephrine, noreinephrine and dopamine), to create immune cells, produce energy, detoxify chemicals and process hormones (including estrogen from the environment – called xenoestrogens).

I first heard about the MTHFR connection in an endometriosis forum as a causative factor behind multiple miscarriages. It is also linked to chemical sensitivities, allergic responses, blood clots, anxiety, deep depression, thyroid issues, headaches, insomnia, and fibromyalgia.

MTHFR C677T & Endometriosis

There are two main possible MTHFR mutations and we can have one or both. The specific mutation that could be linked to endometriosis is MTHFR C677T.

This abnormality limits individuals in their abilities to produce glutathione, which is a significant contributor to detoxification.

Glutathione is in highest concentrations in your liver. It helps clean out toxins in your body from heavy metals, pesticides, solvents and plastic residues like BPA.

Glutathione also cleans up the end product’s from your body’s metabolism — called oxygen free radicals. Free radicals cause damage to cells. Glutathione disarms these oxygen molecules so they don’t do damage to your body.

The MTHR gene mutation (especially the C677T form) may also cause a deficiency in your body’s largest carbon contributor: SAMe. SAMe is also very important for detoxification.

So what does this all mean for those of us with endometriosis? Well in order to process xenoestrogens, one must have functional detoxification pathways.

If our genes are mutated or deleted then the elimination of these environmental estrogens is quite limited. This means that estrogen remains in your body – the fuel for endometriosis.

It also means that dioxins are unable to move out of your body. Studies have shown a link between dioxins and endometriosis.

Factors That Make MTHFR Mutations Even Worse

With the presence of an MTHFR mutation, it is important to note that stress inhibits the methyltation process.

Your liver is very much involved in this process, including the turn of toxins to non toxins so they can safely be removed from your body.

When you drink alcohol, it is your liver’s job to process it using methylation, but if nutrients are depleted or stress is in action then your liver is not able to process the alcohol effectively. This leads to a hangover the next day. Genetic mutation of MTHFR means that the body has a much harder time detoxifying alcohol. (Perhaps the reasoning behind why my body does not do well with alcohol).

Birth control impairs folate metabolism and is known to deplete folate. Therefore, if you take birth control and have the MTHFR C677T mutation, then levels of 5MTHF drop below normal, causing significant issues.

How to Test for MTHFR Mutations

You may be able to get a blood test for MTHFR from your doctor or naturopath, but be aware that many times this is not covered by insurance. I think it depends on the health issue.

I decided to order a self administered saliva test from the web site 23andMe. The test is only $99 and provides a large array of DNA results. I believe they provide international availability.

When the results come in from the 23andMe test the MTHFR gene will not be listed. Instead, we have to download the ‘raw data file’ and run it through one of two websites:

  1. Genetic Genie: For a donation, they run the 23andMe raw data into a report which will show a limited number of genes, including the MTHFR genes.
  2. MTHFR Support: for $20 they run the 23andMe raw data and report over 100 gene results for you.

If you find this all too confusing, you can also schedule an appointment with Dr. Doni – a naturopath who will go over your 23andMe results over the phone.

What to do if You Have the MTHFR Mutation?

It is important to know which kind of mutation (if any) you have before taking any supplementation. If you have a genetic MTHFR mutation then it is suggested to take folate in an activated form called 5MTHF.

This is available in supplement form, or you may be able to get a prescription for it. Dr. Doni recommends starting with a low dose (200 mcg – 1mg) so that the body has time to adjust.

Additional things you can do include:

On the Positive Side?

I ordered my 23andMe test last night and am very curious to see if I have the MTHFR mutation. For me, I feel like this could be a strong reasoning behind much of the issues I’ve had in my life, including my sensitivities to…. well just about everything, LOL.

It seems there is a growing awareness about this genetic mutation that could be a key to earlier identification of potential health issues, with steps in place to help.

Have you tested for MTHFR? Do you have the mutation? What has helped you cope?

I’d love to hear from you in the comment section below….

Much Love,


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