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:
- 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.
- 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:
- Eat organic, whole foods and limit exposure to artificial chemicals, especially xenoestrogens.
- Sweat it out with sauna sessions and exercise to help move out toxins from the body.
- Epsom salt baths help dispel toxins through the skin.
- Supplement with glutathione of the precursors of glutathione (NAC)
- Avoid eating, drinking, cooking or storing foods in plastic or teflon.
- Manage stress
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….
Hi Aubree, Thanks for this. It echoes everything I have been researching on MTHFR and/or methylation problems. I believe there is a link with endo. I’ll email you soon. It’s quite complicated. This has been bugging me for months!
I’m glad that I’m not the only one looking into this…. thanks for sharing the additional info. Much love to you.
23andMe have stopped testing for medical predispositions.I really hope some other company will replace them.
True. This makes it a harder to decipher it all. There are a lot of third parties that allow you to run though the raw data with further analysis. One such one that I was introduced to is http://www.nutrahacker.com – shows which supplements to take and avoid – pretty cool stuff 🙂
Thank you very much 😀 Genetic Genie seems good as well.
Hi Aubree! Just curious…. did you ever get your results for MTHFR?
Hi Mechelle – I did get my results. I have heterozygous mutations with MTHFR C677T discussed in this post. I also have heterozygous mutations with MTHFR A1298C & A1572G.
I am leery of taking the recommended methylfolate for MTHFR since I’ve got homozygous mutations with COMT where further issues can be caused by adding in methyl donors. Long story short, I need to do more testing 🙂
Interesting, Aubree! I got tested for MTHFR (after wondering about it for two years…), and got my results today. I have the c677t gene mutation. Good to know!
Sorry to hear this Mechelle, but I suppose it’s better to know right? 🙂
Thanks, Aubrey. I’m not surprised, and it is way better to know. 🙂
I am also compound heterozygous for the two “major” MTHFR mutations (I tested with 23andme 3 years ago).
I have endometriosis (stage 5), 2 large ovarian cysts (of 2 different types), hypothyroidism, migraines, hormonal imbalance of most of the major hormones, and a pituitary tumor.
I am really sensitive to most things (medications, substances, perfumes, chemicals, etc.), increasingly so over the years, to the point now where even a slight exposure to some of our culture’s most common herbs/spices/teas/flavorings/essential oils/soaps/cleaning fluids will give me perioral dermatitis for months afterwards, if not a migraine or other symptoms.
You seem to have looked into MTHFR extensively already, so you probably know of the major resources on the internet for them, but I thought I’d mention the websites of mthfr.net and phoenixrising.me, which contain a lot of information and opinions (which need to be sifted through carefully and evaluated through a critical lens, of course).
Phoenix Rising has a few great compilations of web resources on MTHFR that were published by some of the members there, in separate posts.
If you are concerned about taking methylfolate, you may want to look into the research of the sadly-deceased researcher Rich van Konynenburg (easiest way to check into his advice on that is via the Phoenix Rising site) and his opinion that taking a different natural form of folate, folinic acid, might be more gentle for sensitive patients (such as those who have chronic fatigue/M.E.) than methylfolate is, at least while they ease into methylation. (At least, I think that it was Dr. Rich van K who said that — I know that someone with authority was talking about that over at Phoenix Rising, and influenced my decision to take both types!)
Plus, I think that the various free publications that I could access of Dr. Amy Yasko regarding this issue advised, at least for my mutations (looking at a number of my mutations, not just the 2 main MTHFR ones), that I would do best by taking a combination of the two natural folates (methylfolate and folinic acid) and a combination of the three natural B12s (adenosylcobalamin, methylcobalamin, and hydroxocobalamin).
Good wishes! T.T.
Two points I forgot to add to my first comment —
a. I think that I read last month that 23andme won their tussle with the FDA, and I think they are again allowed to give the full range of their output to people who do their test, so any interested readers should check into that, if the fact that the medical-conditions report was not being included for a while was making them hesitate to purchase the 23andme test.
Besides, the actual genetic results were all still being provided to people, even with the FDA curtailment, and the main work in looking into one’s genetic picture appears to involve plugging various rs numbers into the 23andme database on oneself… I know that I have spent countless hours doing that, building up an Excel spreadsheet of my various results, and I could spend many more.
b. You mention in your main post that it is often difficult to get mainstream doctors to approve a test for the MTHFR genes, and I am sure that it is, but I actually got the surgeon who operated on my ovarian cysts to agree to test me before the operation for this, because there is apparently something you have to do regarding high homocysteine if you are about to have a surgery. I already knew from 23andme that I was compound heterozygous, but they wouldn’t accept that test (!), so they did bloodwork through their normal lab (at 3 times the price, for only 2 mutations instead of 23,000 or whatever), and the results of that test were, unsurprisingly, that I am compound heterozygous for the 2 main MTHFR mutations, just as 23andme had already said. (I did appreciate getting a confirmation of my 23andme results on that.) Anyway, if folks who are interested in learning their MTHFR status, at least of the two main mutations, are thinking about any sort of surgery, it may just be possible to ask for the MTHFR blood test to be done on their health insurance as a precaution before the surgery, even if they don’t feel they have a homocysteine problem.
(I do not have a homocysteine issue, and I already knew that, and I explained that to the surgeon, but they wanted to check my mutations anyway. Apparently people who are compound heterozygous usually don’t have a homocysteine issue, while folks who are heterozygous or homozygous for just one of the MTHFR mutations, the C677T I think it is, often do have a homocysteine issue.)
Thanks so much for all the information T.T. I will look into folinic acid and the other resources provided. Sorry to hear of your struggles. I too am very sensitive to chemicals. Interesting to find that there’s a reason behind it all 🙂
The surgery part makes sense. The anesthesia depletes B12 levels, which can raise homocysteine levels. Thanks for the extra info!
You are welcome for the information!
They told me they would have given me a medication to lower my homocysteine to normal levels before the surgery, if they had found that I had the MTHFR mutation(s) *plus* elevated homocysteine. As it turned out, their tests revealed that I had the mutations but normal homocysteine, so they didn’t go further into that.
A tip regarding anesthesia — those with MTHFR defects apparently should stay well away from Nitrous Oxide anesthesia, which is used especially by dentists, but also sometimes in other surgical situations. I’ve been telling every doctor/dentist about this in the last 2 years, and none of them have ever heard of the issue before I mention it, but they do seem to take it seriously and put it in the notes. 🙂
I actually found your site tonight because I was looking up endometriosis and NAC and/or melatonin, both of which I’ve only just found out have some recent solid studies showing that they help endometriosis. One website which discusses studies of both of those inexpensive, over-the-counter treatments is: http://drtorihudson.com/category/endometriosis/ which I actually had already visited once last year, and I’m not sure how I missed these particular posts at the time. …If I had seen them then, I could have taken both supplements in a bid to try to slow the growth of my cysts before my surgery! But anyway, my endometrosis-period pain didn’t go away with the surgery, and one of the types of cyst that I had removed grows back pretty frequently in patients, so I still have to deal with this and try to diminish the problem as best I can, on my own, since none of my doctors think any supplements (or actually even any prescription medications) will help me, bar getting a complete hysterectomy, which I don’t want to do.
It’s late and I have to go offline now, but I’ll come back one day to check out the rest of your informative, caring site.
Good luck and good health to all!
Hi T.T. – I’ve heard lots of ladies w/endo having success with NAC. I’d start off slow, as it can have some detoxifying effects. I bought some awhile back but haven’t taken since finding my CBS mutations, which can increase sulfur levels. So another supplement that I’ve been leery of taking before doing more testing. Don’t want to make things worse 🙂
Here’s a great article that explains more: http://metabolichealing.com/metabolic-gateways-cbs-gene-mutations-glutathione/
Thanks again for all your insights! Lovely to meet like minded ladies 🙂
Hi Aubree this is very interesting, I haven’t had the test but my GP put me on methylated b vits as she suspects I have the mutation.
What is the CBS mutation you mentioned?
CBS is another gene/enzyme that plays a role in methylation. If you have CBS upregulation issues then taking methylfolate can actually make things worse until the CBS mutation is dealt with. It’s a complicated process. Will write a more detailed post about this soon 🙂 I’d only worry if you start to feel “off” from the methylfolate – emotionally or physically.
What type of doctor specializes in MTHFR? I have 2 copies of the A1298c
Hi Danielle. I’d look for a functional doctor to help you sort things out.
I also recommend checking out Anthony William. He talks more about methylation in his new book, Medical Medium: Liver Rescue and how MTHFR issues ultimately point to liver issues. He provides great advice on how to support your liver. Check out his book here: https://amzn.to/2CUcy6Q