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MTHFR 1298 ????

Discussion in 'Genetic Testing and SNPs' started by joshi81, Jan 15, 2014.

  1. joshi81

    joshi81 Senior Member

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    Rome,Italy,Europe
    Hi, i was wondering one thing.... while i was reading heartfixer since i am MTHFR 1298 hetero (and normal MTHFR 677) i did not understand this: at first it says that who has normal 677 can produce methylfolate normally because 1298 compromise just the backward reaction from methyl to THF, but.. then it says that they treat the condition with methylfolate supplement... why????? if the problme lies in the trasformation from methylfolate to THF why treat the condition with metylfolate expecially if you are MTHFR 677 normal??????
    here i copied the part of hearthfixer i'm referring to:
    @caledonia

    he MTHFR C677T defect effects the “forward reaction”, the conversion of THF in to 5-methyl folate. MTHFR A1298C has no adverse affect on 5-methyl folate production, but it does compromise the “backward” reaction, whereby 5-methyl folate is converted back in to THF, in the process generating one molecule of BH4. Individuals with abnormalities in CBS and BHMT will be low in BH4, as it is being used up detoxifying ammonia that these defects have generated, so their combination with MTHFR A1298C leads to a BH4 deficiency double whammy. DHPR is the enzyme that regenerates BH4 from BH2. It is poisoned by mercury, lead, and especially aluminum. These toxins are wide spread in our environment, and individuals with Methyl Cycle abnormalities have particular trouble dealing with them. The result is a progressive drain on BH4, a progressive impairment in neurotransmitter production, and conversion of arginine not in to nitric oxide but instead in to free radicals such as superoxide and peroxynitrite. We treat MTHFR A1298C with 5-methyl folate supplementation (aiming to push the reaction backwards) and, after your other Methyl Cycle challenges have been addressed, with nutritional doses of BH4. Metal detoxification will help here and with every other biochemical function in your body, and will be part of your overall program. We will also endeavor to decrease your need for BH4. If you are COMT (-/-), we can provide nutritional support to help maintain dopamine levels, such that you will need to use less BH4 to generate more. If you are MAO A (-/-), we can do the same thing with serotonin precursors such as high tryptophan foodstuffs. The basic philosophy is to stimulate the action of still open pathways to take the stress off your impaired pathways.
     
  2. Critterina

    Critterina Senior Member

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    Arizona, USA
    You take the methylfolate in order to force more of the 'backward' reaction, so that you have BH4, which is used in a number of ways - to make neurotransmitters so you are not anxious or depressed or an insomniac, to detox some chemicals downstream of the homocysteine, and many other things. The one thing mentioned above is NO, which helps keep your blood vessels dilated, so your blood can flow in your capillaries. If you tend to have cold hands and feet, or your fingernails turn blue, that's poor circulation.

    I'm hetero A1298C too. Methylfolate is a good choice for me. I think folinic acid would be an OK substitute, as I am C677T -/-, but I for now I use both. I need to take a fair amount of tryptophan, too, as I tested at half low normal even though I was already taking 500 mg. Overall, I'm just happier when I use these supplements.
     
  3. joshi81

    joshi81 Senior Member

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    Rome,Italy,Europe
    thanks @Critterina , i also see you are hetero for CBS (like me).. exactly what are you supplements? can i ask u if you can tell me the supp you are taking and also how much of them just to have an idea...i'm waiting 23and me but i'm tring to read experiences as much as i can.
    How do you manage the CBS? if i don't go wrong cbs and 1298 together amplify the negative effects each other.
     
  4. Critterina

    Critterina Senior Member

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    Arizona, USA
    @joshi81 ,

    The CBS mutation is a very mild acceleration of the reaction. I don't treat that at all. There is a lot of misinformation on that mutation

    I'd be happy to tell you what I'm taking, but I don't have ME/CFS, I do have histamine intolerance and secondary adrenal insufficiency, and I would guess that what I take probably wouldn't be suitable for you. I did buy some sulfate and sulfite urine test strips, to see if I had a sulfur problem, but I don't. Some of my supplements were recommended because I was dissolving skeletal muscle. Some because apparently I can't use normal B6: I was taking 100 mg/day and my test results showed I was deficient. I switched from B6 to the bioactive form, P5P, and those test results improved.

    Let me know if you still want to know what I take.
     
    Valentijn likes this.
  5. joshi81

    joshi81 Senior Member

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    oh i see, don't worry it was just to kno how other address cbs mutation ..yes there is a loto of information which i cannot sum up because everyone say something different there's who say that a hetero 1298 is not to treat and instead who claim that it has made a huge difference...who says that cbs Hetero is not to be treated and who say yes... ufff anywat to chek the status iv your vitamins did u run test from genova diagnostic or how?
     
  6. Critterina

    Critterina Senior Member

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    Arizona, USA
    Ok, so you should know my opinions, so you can consider my comments in light of them:

    1. The idea that CBS is a mutation that needs to be treated stemmed from someone not reading the research accurately. The mistake has been perpetuated by Yasko and Heartfixer. That said, some people have trouble with sulfur, whether they have CBS or not. I think the "CBS recommendations" probably help some of them, regardless of whether they have CBS +/+ or not.

    2. MTHFR A1298C is probably important to treat in some people more than in others. I think it depends on what combination of other mutations you have. I have A1298C +/-, so I'm a little slower at making serotonin. But I also have a MAO A +/-, so I'm a little slower at breaking down serotonin. The end result - not such a big deal whether I supplement for it or not, although I do think it helps me feel happier.

    I had a serum amino acid test to begin with, last January. I think it was Metametrix. Later, in August, I did the Genova NutrEval, but for some reason they didn't get all the vials they should have, so I didn't get the amino acid results from them. In January I had lots of things going on. By August a lot of that was resolved. In August, it showed that I was low on B2 and Co-Q10. I figured out on a post here that other supplements I was taking would lead to my using up my B2, so that made sense. I was already taking Co-Q10, so I probably should take more of it.
     
  7. concerned_husband

    concerned_husband

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    Seattle WA
    Would you be able to provide more detail on Yasko & Heartfixer being misguided? My wife has the 677T and CBS mutation (along with many others) and our plan was to start the protocol Yasko outlines in her book. If there is more recent research or you've have a positive experience with a different protocol I would love to find out more.
     

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