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Significance of MTHFR Dysfunction

Discussion in 'Diagnostic Guidelines and Laboratory Testing' started by zoe.a.m., Nov 7, 2010.

  1. zoe.a.m.

    zoe.a.m. Senior Member

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    I'm curious about how many people here have had the Methylenetetrahrdrofolate Reductase DNA test?

    A phone consult with my enivronmental/ ME/CFS doctor resulted in a recommendation for this test. He mentioned folate and several other basic things, but it was a complex appointment and the MTHFR test barely stuck in my mind. The two other gene tests I've had for CA 125 and Cytochrome P450 were negative (the latter very much to my surprise at the time), so I wasn't expecting a positive result.

    However, I just received the results on Friday that I am:
    Positive for one copy of the C677T mutation and one copy of the A1298C mutation.

    There is a short description of the results on the lab sheet, but I wonder if anyone else knows a simpler breakdown. I've researched it on the net, but would like to know its implications in ME/CFS (onset? course? treatment?).

    I was able to get my local ARNP to order the test on the non-insurance-covered doctor's advice and she was clear that she could not interpret the results and that she was not familiar with this test.

    I've searched it here at PR and have found several mentions, but it would be nice to hear how many have been tested and if it's yielded any productive knowledge for anyone: thanks!
  2. ukxmrv

    ukxmrv Senior Member

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    I've also got a MTHFR mutation. It was two copies and I can't remember which gene (c677t or a1289c). The results were over 5 years ago and hard to find now.

    My experience has been that supplementing with folic acid helps me with neurological symptoms. The mutation may explain why B6 makes me feel worse and B12 by it's self didn't help.

    I've been meaning to try the Yasko protocol which deals with these issues but I've not been able to get around to it yet. Have a search for the simplified protocol on this forum. There is also a Yasko Yahoo group which may be a good place to post as well. I find this all hard to understand and even the simple explanations are beyond my brain problems sometimes. However, there are flowcharts which show where the blocks may be and how to get around them with various mutations.

    Dr Cheney mentioned that MTHFR was something common he found in his patients as well.

    XMRV+
  3. MargeM

    MargeM MargeM

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    Interesting. I recall that I had a few DNA tests taken about five years ago, and MTHFR was included in the test. The results were negative. I just learned last week that my pcr/culture from VIP was positive.
  4. zoe.a.m.

    zoe.a.m. Senior Member

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    Hi XMRV+,
    Do you not supplement B6 or B12 then? Or do you take a combo B? B12 shots are helpful for me and I began the Folapro (part of the Yasko protocol, or at least was the form of folate recommended at the time), but stopped as a series of things brought on a crash that lasted a couple of months. Will you say which type of a folate supplement you're taking?

    It's surprising to me that if Cheney has been testing for this for a while and even my doctor knew about it that not much seems to be known about it.

    That is interesting. Are you wondering about the relationship between this gene mutation and XMRV? I wonder, if this is seen in a lot of ME/CFS patients, it could be part of a subgroup (imagining that we had true subgroups established at this time!).
  5. caledonia

    caledonia

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    I have one copy of the C677T mutation. My naturopath was iffy on whether that would be enough to mess up my methylation cycle.

    The definitive test is the Vitamin Diagnostics test recommended by Rich Vank. On that one I have a classic CFS profile and partial methylation block. I've been taking methylocobalamin and Folapro for about a year. It's subtly helpful with energy. The main thing it's helped me with is MCS. It's helped me significantly - about 80%.

    However, I also have very badly crashed adrenals, and I"m on adrenal cortex extract. I'm hoping that the combo of methyl B12 and methyl folic acid + getting my adrenals back online will help significantly with energy. It's just going to take awhile, like a year.
  6. ggingues

    ggingues $10 gift code at iHerb GAS343 of $40

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    Hope you are happy with a result for your Xmrv?!
  7. Nickcnate

    Nickcnate

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    New here. I had the MTHFR test this year and am positive for the genetic defect. It's my understanding is that the body can't metabolize folic acid -I was prescribed Deplin-but my insurance wouldn't cover it so then I was RX'd a high doses of folic acid and had a severe allergic reaction. (naturally-if my body doesn't break it down!) ugh
  8. MargeM

    MargeM MargeM

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    I believe my first reaction to hearing the news was a very large grin. (the relief of finally knowing what "it" was, after 14 years of tests without solid answers)
  9. MargeM

    MargeM MargeM

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    Nickcnate,
    So folinic acid wouldn't work for you also? From wikipedia -



    Folinic acid is a 5-formyl derivative of tetrahydrofolic acid. It is readily converted to other reduced folic acid derivatives (e.g., tetrahydrofolate), and, thus, has vitamin activity that is equivalent to that of folic acid. However, since it does not require the action of dihydrofolate reductase for its conversion, its function as a vitamin is unaffected by inhibition of this enzyme by drugs such as methotrexate.

    Folinic acid, therefore, allows for some purine/pyrimidine synthesis to occur in the presence of dihydrofolate reductase inhibition, so that some normal DNA replication and RNA transcription processes can proceed.
  10. caledonia

    caledonia

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    No, you actually want to take extremely tiny doses of 5 methyl tetrahydrofolate, which would be Folapro or the equivalent. The methyl form is already converted for you (the block means your body can't convert it itself). Since the block causes a lot of toxins to build up, when you start on the Folapro, you'll start to excrete toxins. When the toxins come out, you'll feel crappy. So you need to do it very slowly and cautiously or you will pay for it.

    I started with 1/256 of one Folapro, which I was on for months before I was able to increase to 1/128. I'm still only up to something like 1/32 and I've been on it for a year or more.
  11. helsbells

    helsbells Senior Member

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    I have severe mcs and am very interested in this thread, particularly that you say it has been helpful for mcs Cal. - do I read the yasko protocol? Are these her tests?
  12. ukxmrv

    ukxmrv Senior Member

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    Sorry this is a hotchpotch of answers and comments as my brain is really bad today, mostly for Zoe's questions.

    B Vitamins like a multi B have always made my symptoms worse plus I get extra stomach ones
    Vit B6 has always made me worse and increased weakness, neurological problems and mood
    Vit B6 as Pyridoxal phosphate is helpful to me
    B12 as injections of cyanocobalamin did nothing for me (or may have even made me worse)
    B12 as lozenges of Methyl B12 does nothing noticable for me
    ActiFolate I can tolerate
    Folic acid (high from the NHS in the UK I can tolerate)

    It may be that if I tried all these different things together in a proper protocol (like trying the Yasko one) I may make some progess. It's just that I tried different things before I heard about it and am trying something else unrelated now. Hope to have the brain power and money to try it next.
  13. zoe.a.m.

    zoe.a.m. Senior Member

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    How does the folate defect cause toxins to build up? Forgive me if this question has the world's most obvious answer: my brain and body are nowhere near up to speed. I found out my sister has been given folic acid (or whatever form would be appropriate in this case) injections a few times and her doctor suspects she's had this problem. I've found the injectible B12 to be helpful with MCS, but it seems that everyone's benefits/reactions to different types of B are so incredibly different.

    My test paperwork states that both parents should be tested (I guess to see if both defects are on the same chromosome). It also suggests genetic counseling of some sort. Has anyone pursued either of these?

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