Let’s talk MTHFR, shall we? Either everyone you know is talking about it, nobody knows what it is, or you’re someone who thinks MTHFR is a cuss word. (No judgement here. I did too.)
I’m not the first person to write a post about this gene, but I feel like what I’ve read is either too complicated, left me with more questions than answers, or was over the top “alter your life for this gene at the exclusion of the rest of the human genome,” which isn’t the way to play either. So I’m breaking MTHFR down for you: what it is, why you should care, how you can figure out if you have any MTHFR defects, and what to do about it if you do. (This is by no means the end-all-be-all on this gene. It’s a simplistic starting point.)
What is MTHFR?
MTHFR stands for “methylenetetrahydrofolate reductase” and it’s kind of a big deal. Methylenetetrahydrofolate reductase is an enzyme (encoded by the MTHFR gene) that helps process your amino acids, build immune system cells, metabolize nutrients, turn genes on and off, regulate neurotransmitters (which influence sleep, behavior and brain function), hormones, energy, nerve membranes, chemical processing, and converts homocysteine into methionine – which is needed for muscle growth, metabolism, and glutathione (a major antioxidant) production.
Most importantly? The MTHFR gene makes B9 (folate) usable by the body and is essential to the DNA methylation cycle.
What is Methylation?
The MTHFR gene is involved in a process called “methylation.” Methylation determines how genes are expressed, how enzymes function, and how your body clears toxins. Because we encounter a cajillion toxins every day, it’s super important.
If this “methylation system” isn’t working right … you could experience depression, fibromyalgia, migraines, autism, birth defects, low energy, infertility, elevated levels of homocysteine, gotta sleep right now fatigue, IBS, ADD/ADHD, migraines, thyroid disfunction, metabolism disorders, autoimmune diseases, and even cancer.
If you have an MTHFR defect, it’s important that you’re on top of your methylation cycle so that the “light switch” that determines whether you get one of these health issues doesn’t turn on. #Epigenetics
Why is MTHFR Suddenly a Huge Deal?
One … because knowing your genetics is just plain awesome. Two … because it’s kind of the next big thing. And three … MTHFR plays a huge role in the methylation cycle, and the methylation cycle determines how your genes express themselves (*epigenetics*), and how your genes express themselves determine what health conditions you’ll experience. All of these epigenetic expressions can be passed down to your children; so knowing if you have a defect and being able to keep it from affecting your health (or theirs) is kind of awesome.
It’s also a big deal because at least half of our population has an MTHFR defect that prevents them from converting folate into a usable form and 14-20% have a more severe defect. Everyone else is probably doing any number of things that could throw off methylation without it.
Think about all of the conditions associated with MTHFR and methylation that we’re not treating correctly and all of the health issues that could be prevented in the first place just by identifying someone’s MTHFR status.
So, how do you know if you have an MTHFR defect and what can you do about it?
1. Genetic Testing for MTHFR
There are a few ways you can find out if you have an MTHFR defect: You can get your doctor to run a test or do an independent genetic test. The independent genetic test is better because you’ll get your entire genome report, it will test for mutations of the MTHFR gene, it’s relatively affordable, and you’ll get better data. The downside of this is that you have to do some of the work yourself.
On the flip side, you could get the test done by a doctor and covered by insurance, but it will only test for some MTHFR variants and your doctor probably won’t know what to do with the results. This would be an option if you simply need to know the status of the two main variants in order to avoid a procedure or medication.
To get a genetic test, go to 23 and me and order a kit. A few weeks after you return the kit you’ll get a raw data report. You’ll download it from 23andme and upload it to Sterling’s App. At that point you’ll have a ton of raw information (and studies) from PubMed on your genes. If you’re weird like me, you’ll want to upload it to Nutrahacker too because the more you know about yourself, the better. If you still can’t figure out what’s up or what to do, you can take this report to a practitioner who can walk you through it.
What if testing isn’t an option? If you have a medical condition or are leading a super, over-the-top stressful existence – void of sleep and all things green food – then you could probably benefit from methylation support even without a genetic test.
2. Identify Things That Could Throw Off Your Methylation
Regardless of whether you have a defect or not, there are a lot of things that could cause methylation issues like high Sam-E, high THF, Low B2, Low B12, a methylfolate deficiency, nitrous oxide, chemotherapy, autism, infertility, high BP, mental disorders, alcohol (Sorry ya’ll, alcohol interferes with methylation and depletes glutathione levels like it aint’ no thing.), magnesium, green coffee bean extract, heavy metals, chemicals, too much niacin, folic acid, low glutathione, medications, anxiety and stress, poor diet, lack of sleep, and gut disorders.
3. Ditch the Folic Acid
For years folic acid has been pushed on everyone and put into everything. The desire to prevent neural tube defects is a noble one, but folic acid is straight up bad for you. (If you want to know whether a supplement company is legit and up with the latest science, check the back of the label for folic acid.)
Folic acid and folate are NOT the same things. Folic acid is not in a form that the body can utilize or easily clear. It has to go through several steps to be broken down into a usable form and depletes glutathione levels (which throws off the methylation cycle). Unmetabolized folic acid leads to a decrease in natural killer cells and immune system dysfunction.
Methylfolate is the form of B9 that our genes really need. Folate … GOOD. Folic acid … BAD.
4. Eat. Sleep. And Supplement
Diet. The easiest thing you can do to up the methylfolate and boost methylation is to start eating folate-rich foods, like berries, hummus, spinach, uncooked greens, lentils, asparagus, and beets. (However, if you have health issues, this alone might not be enough.)
Sleep. There is a legit connection between sleep and DNA methylation and this is where the MTHFR magic happens. Lack of sleep can make the MTHFR gene manifest its defect through any number of ways from immune system disfunction to metabolic disorders.
Supplement. Start with a good methylfolate supplement and the B12 needed to utilize it. You want a B12 supplement that can be dissolved under the tongue and the form of B12 you get (hydroxy or methyl) should be based off of your genetic report. (If you don’t have one, I’d lean towards methyl B12.)
If you’re really knowledgeable about supplements and you want to dig deeper, here’s a list of other supplements known to help MTHFR defects and methylation:
- L methylfolate + N-Acetyl-L-Cysteine
- Epsom Salt Baths or Natural Calm (Magnesium)
- Vitamin C (Lypo Spheric)
- Zinc
- Vitamin B6
- DMG or TMG (Promotes healthy homocysteine levels)
- Omega 3’s / Udo’s Oil
- Vitamin E
- Silymarin
- Glutathione (Must be liposomal or lypo-spheric to survive stomach acid or taken as a cream.)
- Neuropure (Methylfolate + Neurotransmitter precursors)
- Homocystex Plus
- Methyl Guard (This supplement includes folate + B vitamins + betaine anhydrous)
- Sam-E
- Children’s Multivitamin (Ideal for kids with MTHFR defects)
5. Toxins, Sweat, and Other Things You Can Do
- Decrease your exposure to toxins.
- Avoid antacids (which block the absorption of B12).
- Get a urine test for heavy metals and remove them (especially if you have an MTHFR defect that inhibits your methylation cycle from doing it).
- Exercise to boost serotonin levels.
- Sweat … a lot. (Some toxins are best or only eliminated via sweat.)
- Improve your metabolism.
- Switch to extended release niacin.
- Avoid BPA (shown to disrupt methylation).
6. Don’t Go Off the MTHFR Deep-End
I feel like I should mention the flip-side here because people can get a little crazy with all things MTHFR. (I’m pretty sure there are clubs you can join…) First, don’t to take too much of any supplement (including folate), as it could speed up methylation too quickly. Second, don’t center your life around this one gene. You have thousands of genes and they’re all inter-connected. Sometimes what you would do to help one gene function better can negatively affect another.
At the same time you need to be on your game if you suspect you or your child do have MTHFR defects because they could increase susceptibility to certain health conditions, adverse reactions to vaccinations and medications, and play a role in determining the most effective way to address a health crisis.
(Want to know more about MTHFR? Check out Dr. Ben Lynch and take a cruise through the 3,328+ articles on PubMed.)
I had low ferritin (iron) had to get IV’s all other iron was great. This went on for 2 years. They could not tell me why. I also had bad fibromyalgia, chronic fatigue and multiple chemical sensitivity. The chronic fatigue is gone and so is the multiple chemical is also. Now I have terrible migraines . Anyone else? Any suggestions?
Jeannie
Hi guys, MTHFR 677 is actually a genetic mutation, Hereditary Thrombophlia, and it can’t be corrected as it is inherited…
After loosing 4 pregnancies (all before the end of first trimester), getting through 4 OBGYNs and 2 fertility doctors in Vancouver (Canada), I have decided to consult an European specialist in my country of origin and after 5 years of nightmares, this doctor told me what I have in 10 minutes and confirmed it with series of tests comprised in Hereditary Thrombophilia II category. So I was diagnosed with MTHFR 677 heterozygous. The treatment: 0.5 heparin( lovenox blood thinners) injections in the belly (I did them myself sometimes so not that big of a deal)and 600mg progesterone ( I took 400mg) and 9 months later I gave birthday to a gorgeous baby!
To be noted that in Canada some “smart” doctors said ” it is not proven” ( how I hate this phrase now) and the test is not even covered by the government because the condition is not recognized…. the fertility doctors would say I am perfectly healthy and there is nothing wrong with me and they couldn’t explane what I have other then defolted eggs( without being tested though)…
I never had any problems with my genitalia, nothing, not even an infection, I eat organic, my family owns a natural supplement factory, not a smoker, not even a coffee drinker, skinny … and the funny part is that they will push for IVF, thank God I have a brain and a smart family @ me!! So basically they were asking me to get pregnant to loose again… the fetuses that I lost were genetically tested and they were fine too! The problem is that when I got pregnant the placenta would not be fed because the blood had a tendency to coagulate. And the baby would dye… 🙁
I told you my story because there are so many woman like me with MTHFR … and they are taking advantage of with this IVF treatments that cost a lot of money and the amount of hormones you have to take is so dangerous sometimes leading to breat cancer( again ” not proven” 🙈)…. And so much time lost, emotions and high hopes…
People who have MTHFR( hereditary trombophilia) should take a baby aspirin for the rest of their life or the natural alternative like white willow, or nattokinase, etc.
Also there is a procedure called embrio screening you can have it done for your embrio to eliminate this malformation for your future kids. It is done in USA not Canada as far as I know. Would be @ 30.000$ all the procedure… it is worth it in my opinion, although I didn’t do it myself.
WOW! First of all, I am SO Sorry you had to go through all of that. Second, I too almost lost my second born and they didn’t explain why but told me to take a baby asprin for the whole first trimester…(16 years ago). My first baby was fine, no problems, second pregnancy I had problems with my kidneys and then I was fine. I also had lyme disease, and my second baby tested pos. for that. I was just at my Holistic doc and we were discussing my MTHFR defect and he looked back and said yeah you have the 677 & 1289 heterozygous defect. He didn’t mention taking baby asprin for the rest of my life, but I knew this had something to do with clotting, but it was confusing, so I never looked into it further. I also have chronically low ferritin but all other iron labs and hemoglobin are fine. I have hoshimotos and am on Armour thyroid – quite a bit of it actually. but if I were able to raise my ferritin levels I wonder if I could back off the thyroid supplement. I also am supposed to take vit E, A, Iron & Methyl B12 & methyl Folate, but I am bad about remembering it all. I do take Protandim by a company called lifevantage that I found last November! It has helped a lot, especially helps increase glutathione production by 300% and reduces oxidative stress by 40% in first 30 days. i have seen a lot of improvement, yet I keep having this nagging feeling I need to do more about this MTHFR. Thank you for your post! <3 I think God is leading me to keep being persistent with myself about this.
A little bit about Nutrahacker. There are problems on the site regarding recommendations. Most notably are complaints about conflicting information: while advising caution with methyl donors, also advising that a methyl donor be supplemented. I was disappointed to find that while I was being advised caution on methyl donors, I found that this may be very poor advise. Here is a detailed explanation as to why, under certain circumstances, methyl donors are important, and as to why getting tested for nutrient deficiencies is important before making such decisions: http://resqua.com/702188759/what-is-the-significance-of-a-vdr-taq-gene
Hi Elisabeth, the reason why it appears to be inconsistent is because it gives it’s recommendations based on each gene. If you click on the label it flushes it out for you. So for example, methylfolate might be recommended for one gene but not for another. That’s why it’s important to work with someone who can tell you how to prioritize that information.
I’m confused about how much L methylfolate to take. Doctor prescribed 15mg daily but I have read I should start with a b complex with low dose lmethylfolate. (400mcg)
You should probably listen to your doctor on that one. 😉
Dosage is diff. for everyone and specific to one’s health status.
Thank you, Megan and all of you who have shared your experiences. Great option to look into and helpful pathways and approaches for us to take action and further our own understanding of our genetics.
In thanktitude
Supatra 🙂
23 and me doesn’t include MTHFR on its panels anymore. :-(. Thankfully I asked before I spent the money.
23andMe gives you the raw data report for all the genes (including MTHFR) that can be tested. You have to upload it to Sterling’s App (mentioned in this post) for details on the MTHFR. 😉 (23andme has had that disclaimer for years. I don’t think they provide panels for any genes. It’s the raw data you want and the other apps that give you the details.)
No, 23 And me has STOPPED testing for ANY genes for MTHFR. Its not just a disclaimer…..they really DONT test for it anymore.
This is not true. You can contact their company directly to verify. MTHFR information IS absolutely included in the genetic reports.
Bests,
Megan
Hi Amy! they do. they wont tell you so, but i just got mine back yesterday. If you go to Genetic Genie they will link up with your 23andme account and interpret the raw data as well, for free! 🙂 live wello is another more thourough but charges $20. blessings! 23andme also have a special right now i think for $20 off! all u need is the ancestory, not the health too.
What is the difference between the Ancestry and the more expensive health one then if you still get raw data with just ancestry? Sorry, I’m very confused, I thought to get all of the raw data for health that you needed the more expensive testing?
Thank you!
Just get the ancestry. Their health report is an upsell that really doesn’t give you any useful data.
Thanks for writing this! Youre so awesome and cover the best topics! I know there’s a lot of confusion out there.
Thanks Katie! Glad you liked it.
You can also simply muscle test or have someone do it for you as to whether or not you have this mutation. I believe this mutation can be corrected, actually.
One of my clients in CA told me that she took her son to a doctor who tests for about 30 genetic “defects.” This mom didn’t want to vax her son and this doctor has not found a single person who doesn’t have at least one “defect.” When she finds the defect she writes a medical exemption for that child and all children of the same biological parents! Pretty cool, huh? I think that the state of CA now has the burden of proof to show it is safe to vax these kids but I am not certain on that. Maybe one of your readers knows.
Can you find out for me the physician’s name and how to contact her?
You may email me at [email protected] and I will give you the info.
Thank you Megan for all of this wonderful information. I have been curious about this myself. When you mention to find a practioner, do you mind if I ask what kind? Thank you in advance 😊
Thanks for sharing this. I ordered a kit last week. I believe I probably have a lmmutation because I had severe iron deficiency anemia and my hemotologist said I have to take B-12 methylcolbamin, not the cyanamide, and folate, NOT folic acid as I can’t process either. Liver enzymes fluctuate with no known cause, a few other oddities. Very curious to see my results!
* a mutation
No one should ever take B12 that contains Cyanide!