Thursday, April 17, 2014

The MTHFR Gene

Everyone has it - it is a necessary gene.  The gene is responsible for creating instructions for making a specific enzyme that helps process amino acids.  It is responsible for helping convert folate to an active form that the body can use, and it is responsible for the process of methylation.  This is an over simplified explanation.  The actual processes involved are complex and can be further complicated if other gene mutations are present.  With the MTHFR gene, there are a potential of 40-50 mutations along the strand.  2 of those mutations are more common in the general population.  Those 2 mutations will require supplementation of active folic acid (L-5-MTHF) and active B12 (methylcobalamine).  Some will require an active B6 supplement as well. 

The end result of the methylation process is a substance called glutathione.  Glutathione is directly responsible for the cleansing and repairing of each cell in the body. 

Now there are varying degrees of severity when it comes to an MTHFR gene mutation.  You see we get 2 copies of the gene - one from each parent.  If both are mutated, your ability to convert active folate and B12 is reduced by 70-80%.  That means you are only making approximately 20-30% of the glutathione your body needs.  If you only have one copy of the gene mutated, then your ability to produce glutathione is only reduced by 30-40%. 

So why not just take in extra glutathione?  Well glutathione is poorly absorbed via the gut.  I personally had a few IV injections of it in the beginning after finding out I had the mutation.  But that is not a long standing option.  It is best to supplement with active B12 and active folate to allow your body to create the processes and pathways necessary to make its own glutathione.  Active B12 and active folate are available in sublingual form which are quickly absorbed into the bloodstream. 

But in order to prevent possible side effects or detoxifying reactions, it is best to get tested for the gene mutation prior to starting supplements.  There are rare cases where people can experience detoxifying reactions when taking active B12 if they have another gene mutation.  One can be extra sensitive to the supplements and require a multi step approach starting with very low doses.  It is complex and lengthy to discuss in detail here.  Suffice to say I have yet to read where anyone had an emergent situation arise from taking the supplements.  I personally think there is no harm in starting at a recommended dose prior to being tested...however if you feel worse after 4 or 5 days on the supplements, then stopping them would be advised.  I personally felt worse the first 3-4 days.  I think it was my body's reaction to a substance it so desperately needed that I had a slight detoxifying reaction. 

As for was recommended to me by a naturopathic doctor that my 8, 11, and 12 year olds could take the recommended adult dose of 800 mcg L-5-MTHF and 1000 mcg of methylcobalamine.  Seeking Health makes a sublingual tab that combines both of these in one tablet.  PLEASE NOTE:  Doses are in MICROGRAMS, not milligrams!!!! 

This information should be shared among the TSW community.  According to my poll, 1 person tested negative for the MTHFR gene mutation, but it must be noted that this person was only tested for the 2 most common mutations.  It is possible they had one of the other 40-50 mutations not commonly tested for.  8 are positive, and many more have been tested and waiting for results. 

The MTHFR gene mutation can cause a whole bunch of physical and mental problems.  If you or any of your family members have one of the following, it is worth it to be tested:

Autism, ADD, Schizophrenia, Blood clots, Pulmonary embolisms, Strokes, Heart problems, Down's Syndrome, Miscarriages, Infertility, Depression, Bipolar, Anxiety, Fibromyalgia, Chronic Fatigue, Sina Bifida, Neural Tube Defects, Migraines, Multiple Sclerosis, Dementia, Chemical sensitivities.

This list is not complete....there are many other health problems associated with the MTHFR gene mutations - however these are the more common ones. 

This information about MTHFR is also not complete - this is a very COMPLEX gene and has many different pathways and processes associated with it.  I could get into the nitty gritty scientific verbiage but I find that would be unnecessary at this point in time.  I personally think it is important to discover if you have one of the mutations and to seek treatment for it.  It will make the TSW much easier to live with!

What else can you do in the meantime if you decide not to take the supplements while waiting for test results?  The main thing is to decrease your toxic intake as much as possible!  I believe this is why diet and MW are such hot topics with TSW....both can reduce your toxic intake significantly, allowing your little bit of glutathione to work on the toxins already in your body.  Stop putting anything and everything on your skin and reduce baths to 1-2 per week (water can have various toxins - only adding to the toxic burden).  Decrease as many preservatives, colorings, dyes, and additives in your foods as much as possible.  Decrease exposure to toxins in your environment - open windows if you live in the country and invest in a good air cleaner if you live in a smoggy city. 

Again - not a comprehensive list of things one can do to decrease the toxin burden on the body, but you get the idea. 

I would appreciate any advice or comments - if you feel I left something out that is crucial and important, please let me know.  I did not intend for this to be a scientific post - I wanted to keep it as simple as possible.  In the future I will be detailing some of the important pathways to show just how complex this issue is.   For now, this may help others to understand why I feel the MTHFR gene mutation is the missing link to TSW - it would explain why some people get TSA and others can use steroid creams with no problems whatsoever.  It also explains why moisturizer withdrawal works so well for most who have tried it.  If it is not clear to you, please let me know so I can change this post around so that it is as clear as possible!  Thank you!


  1. Thanks for the post! Very informative! I'm getting blood drawn thus weekend to test for it. What were your side effects to starting the regimen?

    1. Hi Jen,
      The side effects I had that lasted the first few days were an increase in itching (the bone deep itch), restlessness, insomnia, and a general agitation. It might be subtle for some people but I've learned over the last 5 years with going more holistic and natural how to listen to my body so any change is noticeable to me.

  2. Hi Tracy,
    I am so interested in your research about the MTHFR gene. I've commented before about my son Owen who is now 6 months into TSW. We have noticed a huge flare when we stopped his B vitamins. We are actually having this gene tested today so I will keep you posted about our results as well as our progress once we start the supplements for this. Anything that could help our son and anyone else going through this I believe is worth the cost of the test. We are doing a blood test through our functional medicine dr., but have you looked into the testing at I know its $100 and you get raw genentic data but wasn't sure if anyone had actually used it with good results yet. Just curious as it seems like an easily accessible test and relatively inexpensive. Anyway, thanks for all of your hardwork on this topic.
    Julie at

    1. HI Julie,
      Thank you for your comment! I appreciate your help in all this by getting tested. I have often recommended the 23&me testing for those unable to get the blood test. From what others have told me, the 23&me test may not test for every single possible mutation on the MTHFR gene - If I'm not mistaken, it only tests for the 2 more common mutations. So far there are 2 negative results on my poll - I am curious to know if the people reporting negative results are those that have been tested for only the 2 more common mutations. There are a possible 40-50 mutations known on the MTHFR gene. I personally had the blood test to test for all possible mutations. Anyway, please keep us posted on the results! Hoping Owen is getting better overall!

  3. I started using the supplements Tracy recommended without being tested. The side effects were very intense: increased insomnia (I could fall asleep at 6am), increased itchiness - really bad. It was hard to function. I had to stop using the supplements.
    Do you think next time I get brave enough should I just get through the increased discomfort? Are the side effects going to disappear after few days?

    1. Hi Bea - sorry to hear you are having such side effects - they are rare but can happen if you have other gene mutations that complicate things. Other people can just be sensitive to the methylation. You could try starting with very small doses (1/4 of a sublingual tab) and slowly work your way up. I had insomnia and severe itching as well the first 4-5 days then the side effects went away and healing started. How long did you use the supplements for? Most people report increased itching when starting them and then within a week things begin to improve.

  4. Tracy, i used them for about 6 days.
    It was a torture.
    Next time I start with smaller doses.
    Probably when summer vacation starts for kids as I was litteraly falling asleep when they were waking up.
    I know I should get tested as this may not be the correct way to go for me, but I want to give it a try.
    Thank you so much for the research and keeping up with the blog

  5. Hi Tracey!

    With the L-5-MTHF supplements from seeking health, which one are you using?

    or the

    Would the sublingual Methylcobalamin (active B 12) be these ones?

    1. Long shot but do you know anyone in Australia that are using the supplements you recommend and where they get them from since the brand seeking health only ships to the U.S and I've never used a mail forwarding service before :)

    2. Winnie....I don't know anyone who is getting the supplements in Australia. I know other brands carry the active B12 and active folic acid. Does Amazon have a site for Australia?