MTHFR Mutations and Lyme Disease

This one is a good read for those with Lyme and co’s and those without. It is information that could help explain a lot if you are feeling unwell. It is also not a common thing that your doctor is testing for. Studies show that up to 50% of the population could have some sort of variation of this gene in different severities, and knowing about having this mutation and addressing it can help protect you from several illnesses and diseases.  

This past winter, I received an e-mail from my Lyme-literate naturopath regarding a test for genetic mutations of MTHFR. At that point, he was checking a bunch of boxes on my bloodwork, just trying to get some answers as to why I wasn’t getting any better. 

I read the e-mail with the results of my bloodwork and was immediately confused. MTHFR? I immediately thought motherfucker genetic deficiency when I read it. What is a motherfucker gene? LOL He pointed out the basics of what it was, a source to provide myself some information about this, and how to see some improvements. 

What is MTHFR? MTHFR is a gene that provides instructions for making the MTHFR enzyme (methylenetetrahydrofolate reductase… yeah… we will stick with MTHFR ;)) . This enzyme plays a role in producing amino acids, and is needed to create a chemical reaction involving forms of folate vitamins (B9 and folic acid) and the amino acid homocysteine, to make another amino acid, methionine. Ok… did I lose you yet? 

This gene plays an important, significant role in the methylation process in your body and is necessary for the production of nutrient enzymes. Methylation is a process in which your body alters the behavior of a gene and what it does, without actually changing the gene itself. Why is this necessary? With this particular gene causing these methylation pathways, it causes your body to have a very hard time detoxing, and make you have a predisposition to having many other illnesses and ailments. 

There are over 50 types of this genetic variation. However, the two most common types that are problematic are C677T and A1298C.These types refer to the numbers on the gene. 

Then this is where it gets even more confusing. There are many combinations of these, homozygous and heterozygous, etc. If you have two copies of a mutation, you are considered homozygous. One copy, heterozygous.  If you have a homozygous  deficiency, your enzyme efficiency about 30% effectiveness. Heterozygous, roughly 70% effectiveness. 

Two copies does put you at a higher risk of this mutation to be problematic. For instance, you can be homozygous 677,but heterozygous 1298. This would mean that both of your parents passed down the 677 mutation, but only one parent passed the 1298 mutation to you. Kind of get it now? 

What are some of the symptoms and conditions associated with having a MTHFR genetic mutation? There are different signs based off of what type of mutation you have.. or both! With the 677 genetic mutation, you are more susceptible to cardiovascular disease, issues with glutathione production, and peripheral neuropathy to name a few conditions. People with the 1298 deficiency are more susceptible to schizophrenia, dementia, decreased serotonin and dopamine levels, elevated blood pressure, migraines, nerve pain, also among many other symptoms and conditions.

Deficiencies in your MTHFR genes in general can also predisposition you to colon, breast, and rectal cancers. Homocystuneria, IBS, OCD, fibromyalgia -like symptoms, heart issues, addictions, psychiatric disorders, and migraines.

Research also shows that having a mutation of this gene can lead to birth defects, pregnancy difficulty, and the ability to get pregnant. Spina bifida, Down’s syndrome, and anencephaly are now associated with having one of these mutations as well. Dr. Amy Yasko has not seen an autistic child who did not have one or more of the MTHFR gene mutation. It is believed that 98% of children with Autism have some sort of MTHFR abnormality. That’s a lot!

How can you get tested for MTHFR? The way you can be tested for MTHFR is through blood work, saliva, and an oral swab. You can easily go to your doctors and ask them to order the Methylentetrahydrofolate reductase DNA test. Or just ask him or her for the MTHFR test. Either way. 🙂 These tests generally has to be sent out and can take a few weeks for you to get your answers. 

Other tests to consider if you are getting tested for MTHFR are homocysteine (an amino acid that is involved in the methylation process), Factor V Leiden  Mutation ( I got this fun one too), and your vitamin and folate levels as they all intertwine with MTHFR.

Now… how does this relate to Lyme disease? As you can see, there are a lot of reasons alone to take this mutation seriously. What is important to help ease symptoms and eliminate all the toxins in your body? *you should be raising your hand to this question!* If you said detox, you would be correct. 

In Lymie terms, the main issue is DETOX. Your body with this mutation does not have the process to eliminate toxins like those who do not have this mutation.  Toxins from candida, toxins from die-off, toxins from your antibiotics. People with MTHFR also tend to have a heavy metal toxicity, which also hinders the Lyme treatment process. 

What can you do once you find out you have a MTHFR genetic mutation? Unfortunately, you can’t change your body’s genes, but there are a ton of options to aide your body in what is called a methylation process. This means trying to get your body to properly make what it needs to, but it just needs help to get there. Many people do not need to address this issue at all, because they function at a better rate. 

With Lyme disease, it attacks everything as we know, and it is a MUST to address it! 

Some of the options to try include: methylfolate (Deplin prescription), b12 (specifically active methylcobalmine, intramuscular shots are a great option for this), probiotics (a given for Lymie’s!), Betaine (TMG), Riboflavin, milk thistle, NAC, nattokinase and baby aspirin (homozygous to prevent blood clotting), EPA/DHA, glutathione (needed for liver detox), flax seed, fish oil, and vitamins C, D, and E are also recommended.  ** ASK YOUR DOCTOR WHAT IS RIGHT FOR YOU**

Is there anything you should avoid if you have a MTHFR genetic mutation? Why yes there are! Avoid antacids, as they block b12 absorption, folic acid, which can be in foods as you can not process this well, certain birth controls, and nitrous oxide that is used in most dentistry as it increases homocysteine levels and depletes your B-12 levels. You should also avoid environmental and household toxins.

You will have to work extra hard to eliminate toxins from your body. Epsom salt baths, saunas, diet (gluten, sugar, and as well as avoiding folic acid and foods high in sulphur), burbur drops, lactated ringers (if you are on IV treatments), lymphatic massage, lemon water, and green tea are some good options. Please read my “Detox” blog entry for more information about detox. 🙂

Once again, everything needs to be done in moderation. You can actually make yourself feel worse if you overdo your methylation process. Ways to tell you might be overdoing it are fatigue, shakiness, fogginess, and dizziness to name a few issues. The best way to go about a methylation process is to start SLOW… then work your way up to your doctor’s recommended dose. Too much to start this protocol can overwhelm your body.

Hope this information brought to light some information for those who have MTHFR, or should consider it as a possibility. Having Lyme disease, it could be the piece of the puzzle that is hindering you from getting well. Consult with your doctor before starting any new additions to your protocols and have a great day! 🙂,,,,,,,,,,,

40 thoughts on “MTHFR Mutations and Lyme Disease

  1. I am definitely getting tested for this! Thanks again Kim, very informative.. I’m thinking I finally understand this M’FER, and have the symptoms.. I don’t detox well and I have tried so hard. 🙏🙏🙏

  2. Not being devil’s advocate here at all, really. Just why not try a few detoxing ideas and see if you get better? Tests are expensive, and to know you are more predisposed to even more issues as you age does not give me comfort. (sick for over 15 years) So I wonder if I am missing something here. It feels like it would be just one more thing to argue with doctors about. I’m worn out by doctors and so is my bank account. So what is the real benefit of knowing you have these gene mutations, why not use some of the helpful detox methods you listed and see how you feel after a week or two? I am serious about knowing the answer. I am fatigued currently retesting for Lyme am tired of learning about tests that may or may not lead to another piece of the puzzle called “my health and happiness”.
    I liked what you had to say, just struggling to see what testing is worth knowing about. Thanks, keep up the good work!

    • Thanks! You are right. Some people would feel more comfortable knowing to be tested, but adding these methods of detox on your own would be beneficial to anyone, even if they didn’t take the test. (That is in my opinion, but of course I am not a Dr so it should be discussed) For you, a good Lyme literate doctor would never have you retake a Lyme test. Once you are infected, you are looking for remission, as it will never go away. Best of luck to you!

  3. Oh my… I have had this test done and I didn’t understand it fully and it’s been difficult to explain to people. Yes… after having it done doctor recommended detoxing agents such as Chlorella, Bentonite Clay and Activated charcoal along with the sauna and epsom salt baths. After I started to take detoxing elements, my energy began to regain itself. I’m still on rest orders from the doctors and I still have pain from the Lyme, however, they are now trying to figure out what heavy metals or other that I have on overload. Thank you for the explanation. Very grateful.

      • You did a great job! I have tried to understand Methylation for the longest time now — and eureka!! — you finally made it simple enough for me to get. I can’t thank you enough! I run the WA State Online Lyme Support group, I’m going to put up a link to this blog! So much wonderful, useful information. Thank you for all the time and effort I know it took for you to write this. -Willo

  4. Are you sure about avoiding sulphur-rich foods? I’ve been reading extensively on MTHFR, and the recommendation is always to eat lots of vegetables high in sulphur (onions, cabbage, broccoli, etc.).

    • This is just what my research brought me. It also depends on what mutation you have as there are more than one. I sited all my sources on the bottom of the page and found them to be a little easier to understand than some of the others.

    • It makes sense, since the Methylation process, broadly defined by a friend of mine who researches this stuff, is our body taking the sulfur from foods and turning it into things like glutathione.. so if our processing is off, the sulfur doesn’t get changed properly. Result: toxins building up in our system because of the inability to cleanse ourselves.

  5. i am hero for the MTHFR gene and was taking the very expensive deplin. Didn’t notice that it was helping me much so I stopped taking it along with my husband and 2 children so VERY expensive. About 6 mo. later i was diagnosed with Lyme and 4 co-infections from a lyme literate doctor. After 6 weeks of Iv antibiotics and 2 mo of orals my lyme was in remission. He has been working on getting my high titer of HHV6 down and it won’t budge. I had 7 cidofovir infusions and now on vaylcyte 450mg 3x a day and still won’t come down and I’m not getting better. I told my llmd about my MTHFR results and he said that it has nothing to do with it and more or less just ignored it. Maybe I should try and get my last deplin filled and just do it on my own. My whole family was tested by a psychiatrist but, he has since retired and the 2 other psychiatrist I have seen don’t believe in it and tell me not to waste my money. Maybe this is why my HHV6 won’t go down? Im also on clarithomyacin to keep the lyme away and also to treat other confections. Is L-Methofolate the same as deplin and if so where can I get it. Thank you for any information, I would greatly appreciate it as I am so tired of being sick for all these years. Also any recommendations on a natural laxative. I had to have my sigmoid colon removed which i believe was due to the lyme and have adhesions in my intestines and its very hard to eat healthy because I’m suppose to be on a low fiber diet.

    • I know folate is the same, I am not sure if l-methofolate is the same thing? I am sure it is. Maybe Deplin is too much for you, it was for me and caused me to overmethylate so I was detoxing too quickly but it was not leaving my body. I use a product called Folate 1000, made my Pure Encapsulations, so it is a much smaller dose and take every other day. I feel a lot less “toxic” now. The HHV6 would likely not have anything to do with the gene though and rather trying to find a treatment that works for it.

  6. My husband was just diagnosed Western Blot Positive for Lyme on Igm bands 18, 31, and 39 and 41 on IGG. He thinks he has had the disease for 4 years even thought the IGG part is really considered negative. He also has the mutation on MTHFR. Could the mutation affect the outcome of the Western Blot? As in, if the body is hanging on to toxins and such, could it make the test false positive? Maybe just wishful thinking on my part!

    • No, the mutation would not effect the Western Blot. It is an entirely different thing. Knowing if you have MTHFR is just information to know if you may not detox properly, as there are specific supplements that can help you better and to at least know there may be detoxing issues.

      Did you test through Igenex? I do not believe they have false positives. I am not sure about which are Lyme specific bands but I do believe 41 is. I could be wrong though. I would see a LLMD and get an opinion. Good luck!

  7. Knowing which of the MTHFR mutations one has helps understand the extent to which one can’t detox normally. It also confirms why people in general should stay away from processed foods (they are supplemented with folic acid which is dangerous to those with MTHFR mutations and accumulate over one’s lifetime). To those who are asymptomatic and oblivious to it may not be so fun when they are older and end up with DA, FIbro, and a lot of other things through gradual accumulation of unconverted folic acid they can’t flush out along with other stuff and it just sits there until it’s enough to contribute or cause other auto-immune illnesses like endometriosis, for example. Over 156 countries banned fortification of foods and imports for a good reason – fears of too much folic acid that a great number of people cannot convert to folate. As to the test expense, if someone has Quest Diagnostics or Lab Corp an MTHFR panel is the price of a co-pay and is hardly frivolous. In fact – it may be requested at the same time as other blood work. I’m all for skipping on unnecessary test but had I known I had it (I’m compound hetero), I would not have taken Cipro and dealt with that nightmare after just two pills. I eat cleanly and have for years, GF, soy free, etc. Imagine my surprise when I understood that I could eat five lbs of spinach and get so little benefit from it because my daily B12 came in the wrong form. Many other things too. Kimmie cakes is 100% correct. To be blunt – what is the point of creating and religiously following a protocol when it’s all built under an assumption that one’s basic MTHFR conversion process is a healthy one? Think about how many people legitimately bemoan terrible herxing while others rarely do. Forty percent of population has some form of MTHFR mutation. That is a solid statistic and a compelling one arm yourselves with facts and adjust accordingly. Switch out your B’s, start on the right form of folate just in case and please get it tested. CBS (responsible for sulphur /sulpha intolerance) is not as easily tested but if you feel wonky after laughing gas at the dentists’ or got badly floxed by an antibiotic that should be a hint. Do you or your child have a Tongue Tie? That’s one of tell tale signs. My own situation’s dramatically improved (less fuzziness, can take molybdenum comfortably, many other things helped). Had a conversation with a dear friend who complained of headaches after her detox baths and taking MSM. When she cut those out from her detailed Lyme regimen they went away. Why get this test? Because it’s now commonly known that a great deal of misery during and after treatment comes from the junk living and left behind. Why would you not want to know if you can maximize recovery while reducing discomfort. Another plus – anyone diagnosed can help their families by getting them tested. It should be a no-brainer and nominal money well spent. 🙂

    • Victoria, what is CBS, and what is the test? I was told as a child that I can’t tolerate sulfa drugs, and as an adult I found MSM dramatically increases my pain. One of my children’s tongue membranes had to be clipped as a newborn. Thanks!

  8. I’m a Lymie with MTHFR. Thanks SO much for writing and explaining this so clearly! I can never seem to explain it…now I can send people who ask your post! Appreciate all your hard work!

  9. Pingback: got this too – yippee— MTHFR Mutations and Lyme Disease | Slices Of Lyme Pie

  10. Are there specific tests that determine whether or not I will be able to handle taking methyl supplements? I’ve been reading that lots of people start to take the supplements and feel worse. I’d like to know for sure before trying the methyl supplements.
    Thank you!

    • I would recommend getting the 23 and me test, plugging into the mthfrsupport website, and getting someone that can interpret them. I had to get some supplements tweaked. Any good LLMD would be able to give you the basics depending on what mutation you have though.

  11. Good article Kimmie. Dr. Andrew Rostenberg in Idaho has alot of good information regarding the MTHFR gene mutation. He has a separate website dedicated to this topic. He’s a chiropractor. I have not seem him personally but I found his videos online when I was doing research for myself and they are awesome. Very thorough and easy to understand. It answered so many questions for me and the light bulb went on. Just another good source for information.

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