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Working to better understand 23andMe results

Discussion in 'Genetic Testing and SNPs' started by future_man, Jul 27, 2013.

  1. Bluebell

    Bluebell More % Neanderthal than Adreno but less hairy :-D

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    What is NDT? Dessicated something? Is it over-the-counter? Does it seem to be helping? What were your initial thyroid problems?
  2. Valentijn

    Valentijn Activity Level: 3

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    The CBS C699T shouldn't cause any sulfur problems at all. It's possible that the entire CBS gene can cause sulfur issues in Downs' Syndrome, where people have three copies of the chromosome, but I haven't seen any indication of 1) that CBS C699T is involved in that problem or 2) that harmful CBS upregulation can happen at all outside of Downs' Syndrome.
  3. Bluebell

    Bluebell More % Neanderthal than Adreno but less hairy :-D

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    In the CBS thread you linked to above, I see that Dbkita said something similar -
    "Having spent now 20+ years in bioinformatics and genomics, I can tell you in all honesty that when the actual functionality is determined by a concert of multiple genes working together in an integrated network of interactions of their expressed protein products, the system behavior is complicated. Often too complicated. So clinicians fall back on the crutch of one or two heterozygous mutations being the culprit. That is simply wrong ...
    That being said a person may have reached a state due to metabolics, epigenetics, or many SNPs + exposures to metals, toxins, infections, etc. that their chemical reactions are not properly coupled anymore and they end up with too much say ammonia, etc. Then the important thing is how to treat this clinically. What is not necessarily useful is to see a heterozygous mutation in the CBS gene and then jump to the conclusion the person has a definite problem. Reverse it. What are their symptoms and work back, don't read the genome ticker tape and speculate forward.
    ....In the end it all depends on what works clinically."
    http://forums.phoenixrising.me/inde...versy-with-the-cbs-c699t-enzyme-defect.13957/

    Later he said, "It is in fact extremely rare that one or two heterozygote mutations will ever lead to significant dysfunction. I would rather prioritize epigenetic or phenotypic factors due to say enviromental toxins, infections, severe stress, medication usage, etc."

    THIS kind of idea is why I stopped putting a lot of time into my "advice chart" that I mentioned earlier, and decided to test out something simple like a facsimile of Rich's protocol and see how I felt with it.
    Valentijn likes this.
  4. Bluebell

    Bluebell More % Neanderthal than Adreno but less hairy :-D

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    Note: I didn't mean that it sounded like a bad scenario. :)
  5. Valentijn

    Valentijn Activity Level: 3

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    o_O ... Come on people, keep the flirting to the emo boards!

    :D
  6. Bluebell

    Bluebell More % Neanderthal than Adreno but less hairy :-D

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  7. Valentijn

    Valentijn Activity Level: 3

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    Ah yes ... "friendly" ;)
  8. Bluebell

    Bluebell More % Neanderthal than Adreno but less hairy :-D

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    I had not heard of this method, so I just looked it up.

    Do you think it would be applicable to my situation: http://forums.phoenixrising.me/inde...ul-for-some-guidance.23975/page-5#post-374676

    I don't have low cortisol generally, apparently, but someone here said that my morning is a bit low, and my bedtime level is apparently too high according to the lab. My DHEA-S is really low.

    And my reverse T3 is high.

    I do not know what all this means and I have not been treated for hypothyroidism.
  9. Bluebell

    Bluebell More % Neanderthal than Adreno but less hairy :-D

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    You people from the coasts do not understand the open-heartedness of folks from The Heartland of America (tm).
  10. Critterina

    Critterina Senior Member

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    Valentijn,
    I was suprised at your take that CBS C699T upregulation is not much of an issue. I'm am not ME/CFS, and not Down's. I am:
    +/+ SHMT1 C1420T, MTRR A66G, VDR Bsm & Taq (or not Taq, I'm GG), BHMT-08 and
    +/- CBS C699T & A360A, MTHFR A1298C, MTR A2756G, MTRR A664A, MAO A R297R

    So, this is what happened: My methionine had tested below normal and my homocysteine was in the lowest 20% of the normal range (Tryptophan was also very low, but let's focus on sulfur.) We only had the MTHFR results. I was put on 1500 mg Methionine +1800 mg NAC + 200 mg ALA (plus MTHF, MB12 and other supplements) for the last 3 months and had increasing bloating, loss of appetite, weight gain, undigested food in stools, and sluggishness. I had to stop all amino acids before my last blood test; during this time these symptoms improved. After the test, I resumed my supplements except the three with sulfur, I did a low sulfur diet for 5 days, and I felt even better. I lost 7 lbs in 6 days as these symptoms resolved. My sulfite levels were low and my sulfate levels dropped from >1200 to 200-400.

    To me it looked like my partial up-regulation of C699T causing problems, which the elimination of sulfur resolved. I imagined the supplemental MB12 letting my MTR run wild, using up all the MTHF I gave it, and having the homocysteine drawn down the CBS drain as fast as I could make it. I very much respect your opinion and insight. Help me see this another way.
  11. Valentijn

    Valentijn Activity Level: 3

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    The NAC was likely elevating your sulfur levels.

    Other external factors also may have been elevating sulfur, or other genes. But there's no research indicating that CBS C699T is capable of such a feat, and quite a bit showing that the up-regulation is beneficial.
    helen1 and Critterina like this.
  12. Critterina

    Critterina Senior Member

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    Thanks, Valenijn! I have been reading the stuff of C699T and how the conclusion that it sucked everything down the drain was based on an artificial, induced, drastic truncation of the gene, not the missense mutation in question. I have a lot to learn!
    helen1 and Valentijn like this.

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