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23andMe results, advise needed please!

Discussion in 'Detox: Methylation; B12; Glutathione; Chelation' started by abporter, Oct 11, 2013.

  1. abporter

    abporter

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    Reno, NV
    I just ran my 23andme raw data through Genetic Genie and got the following results. Any insight and advise would be much appreciated!

    Methylation:
    COMT V158M rs4680 AG +/-
    COMT H62H rs4633 CT +/-
    COMT P199P rs769224 GG -/-
    VDR Bsm rs1544410 CT +/-
    VDR Taq rs731236 AG +/-
    MAO-A R297R rs6323 TT +/+
    ACAT1-02 rs3741049 GG -/-
    MTHFR C677T rs1801133 AG +/-
    MTHFR 03 P39P rs2066470 GG -/-
    MTHFR A1298C rs1801131 TT -/-
    MTR A2756G rs1805087 AG +/-
    MTRR A66G rs1801394 AG +/-
    MTRR H595Y rs10380 CC -/-
    MTRR K350A rs162036 AA -/-
    MTRR R415T rs2287780 CC -/-
    MTRR A664A rs1802059 GG -/-
    BHMT-02 rs567754 CC -/-
    BHMT-04 rs617219 AA -/-
    BHMT-08 rs651852 CT +/-
    AHCY-01 rs819147 TT -/-
    AHCY-02 rs819134 AA -/-
    AHCY-19 rs819171 TT -/-
    CBS C699T rs234706 AA +/+

    Detox:
    Gene & Variation rsID Alleles Result
    CYP1A1*2C A4889G rs1048943 TT -/-
    CYP1A1 m3 T3205C rs4986883 TT -/-
    CYP1A1 C2453A rs1799814 GG -/-
    CYP1A2 164A>C rs762551 AC +/-
    CYP1B1 L432V rs1056836 CG +/-
    CYP1B1 N453S rs1800440 CT +/-
    CYP1B1 R48G rs10012 GG -/-
    CYP2A6*2 1799T>A rs1801272 AA -/-
    CYP2A6*20 rs28399444 II -/-
    CYP2C9*2 C430T rs1799853 CC -/-
    CYP2C9*3 A1075C rs1057910 AC +/-
    CYP2C19*17 rs12248560 CT +/-
    CYP2D6 S486T rs1135840 GG +/+
    CYP2D6 100C>T rs1065852 AG +/-
    CYP2D6 2850C>T rs16947 AG +/-
    CYP2E1*1B 9896C>G rs2070676 CC -/-
    CYP2E1*1B 10023G>A rs55897648 GG -/-
    CYP2E1*4 4768G>A rs6413419 GG -/-
    CYP3A4*1B rs2740574 CT +/-
    CYP3A4*2 S222P rs55785340 AA -/-
    CYP3A4*3 M445T rs4986910 AA -/-
    CYP3A4*16 T185S rs12721627 GG -/-
    GSTP1 I105V rs1695 AG +/-
    GSTP1 A114V rs1138272 CT +/-
    SOD2 A16V rs4880 AA -/-
    NAT1 R187Q rs4986782 GG -/-
    NAT1 R64W rs1805158 CC -/-
    NAT2 I114T rs1801280 CT +/-
    NAT2 R197Q rs1799930 AG +/-
    NAT2 G286E rs1799931 GG -/-
    NAT2 R64Q rs1801279 GG -/-
    NAT2 K268R rs1208 AG +/-
    Gene Result
    GSTT1 Absent*
    * It is likely that you are missing this gene and have a deletion. However, since this type of testing isn't technically designed to detect deletions, it isn't with 100% certainty.

    Also previous genetic testing through Genova Diagnostics shows:
    GSTM1 Absent

    Other SNPs from Genova matched Genetic Genie except that Genova showed for me:
    SOD2 A16V +/+
    And that I have polymorphisms in
    CYP1B1, CYP2C9, and CYP3A4

    Thoughts and advice are much appreciated!
    Brent

    --------------------------------------

    I also googled GSTT1 and it said this: "This gene encodes a cytoplasmic glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione." http://en.wikipedia.org/wiki/GSTT1

    I may be way off, but this make me wonder if this is why I had a bad withdrawal from Klonopin, which I'm now back on (to keep away sensitivity to light and sound, which I didn't have before taking Klonopin, even though I had fatigue). Anyway, 2 genes relating to glutathione are possibly absent.
  2. abporter

    abporter

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    Reno, NV
    I see that I need to address my CBS C99T mutation first, before trying any methylation protocol. I watched the Methylation Made Easy videos and downloaded Dr. Yasko's Autism: Pathways to Recovery book. I tried to print it today at Office Depot but they couldn't get it to print, so maybe the pdf is locked so it can't be printed. After reading her section on CBS upregulation and the foods to avoid, I wish I had a list of what I can eat. Looks like the next step is to get a UAA baseline test done. If anyone has a recommendation on doctors who might know how to proceed, please let me know. Thanks, Brent
  3. Valentijn

    Valentijn Activity Level: 3

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    Yasko's advice regarding CBS C699T (and CBS in general) is based on very badly misreading the research. Her assessment of risk is actually the opposite of published research, which shows that it's the slower (-/-) versions that can cause health problems.

    Dietary or other changes shouldn't be necessary based on your CBS gene, and people have ran into other health problems by going overboard with it. Proteins are necessary for good health, as is cysteine, which you might miss out on if you try to "shut down" or slow down CBS.
    abporter likes this.
  4. UM MAN

    UM MAN

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    Florida
    My CBS mutations are very expressed and caused me to be low on SAM and deficient in molybdenum.
    For me adding TMG up regulated my BHMT pathway, and helped recycle more homocysteine.
    I pee 4 times the normal sulphate rate, but I have no sulfur allergies. Reducing protein intake never made sense to me.
    abporter likes this.
  5. abporter

    abporter

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    Thanks for the feedback. I've had two different physicians tell me that I need to eat protein several times a day, so I was surprised to read what she said to avoid for a CBS SNP. So many things are good in that list, fish (omega-3s) and coconut oil which is anti-viral.

    Valentijn If you have time, could you provide a link to the research you are referring to? I tried to find something by googling "CBS SNP", but most everything refers to Yasko. This link referred to Rich's protocols (simplified and non-simplified): http://forums.prohealth.com/forums/index.php?threads/methylation-cbs-upregulation.179701/
    But it sounds like from what you said according to your referenced research, I could go on with Rich's protocol without needing to be concerned about the CBS SNP?

    UM MAN Thanks for the info.
  6. caledonia

    caledonia

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    Cincinnati, OH, USA
  7. caledonia

    caledonia

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    I believe CYP1A2 should actually read CYP1A1. These are notes I took from the MTHFRsupport Blog Talk Radio Show on the SNPs, January 30, 2013, and also the Detoxigenomics Sample Report.

    CYP1A1 and CYP1B1 breakdown estrogen into estradiol and esterone, which gets broken down into 2 hydroxy esterone, 4 hydroxy esterone, and 6 hydroxy esterone. 2 hydroxy estrone is a good one, the 4 and 16 will find onto estrogen receptors and cause estrogen related cancers such as breast and uterine or prostate. CYP1B1 breaks down into 4 and 16 hydroxy esterone. You can use DIM to assist this as long as you are methylating it. This means having a good operating methylation cycle.

    DIM is a cruciferous vegetable such as broccoli, a usable metabolite of IC 3. You need to have good stomach acid to absorb it. You need to check your CBS and COMT pathways. If a person has CYP1A1 or CYP1B1 and no CBS or COMT they can use DIM or IC 3. If they have CYP1A1 and CYP1B1 and CBS and COMT they should use calcium deglucarate instead.

    CYP 2D6, CYP 2E1, CYP 3A4–these control which medicines you break down or not and thus have an adverse reaction.

    Note - Klonopin is detoxified through CYP3A4, and since you have a mutation there, that's probably why you're having trouble with it. Of course, low glutathione probably wouldn't help either.

    The various GST genes control glutathione. You have lots of problems there, and will require more glutathione than usual.

    NAT1, NAT2–controls breakdown of certain drugs and the acetylation pathway in the liver. Driven by vitamin B 5–pantithene. NAT detoxifies petrochemicals. People with NAT problems can be chemically sensitive to perfume gasoline toluene xylene etc.–multiple chemical sensitivity. Use vitamin B 5. B5 also helps with adrenal support.

    Note - With CBS, keep B5 supplemention very low.

    Detoxigenomics - NAT - N-acetyl Transferase detoxifies many environmental toxins, including tobacco smoke and exhaust fumes. Polymorphisms can result in slower than normal or faster than normal addition of an acetyl group to these toxins. Slow acetylators have a build up of toxins in the system and rapid acetylators add acetyl groups so rapidly that they make mistakes in the process. Both slow and rapid acetylators are at increased risk for toxic overload if they are exposed to environmental toxins. If the toxin exposure is reduced, the risk is reduced.

    SOD2 - we ran into this on some else's report who had also done Detoxigenomics and 23andme. If SOD2 is +/+ on Detoxigenomics, it will be -/- on 23andme and vice versa. There are conflicting studies that they're referring to.

    Anyway, SOD2 can affect the mitochondria, which, of course, causes fatigue. I think it's worthwhile to do a trial of Biotec Extra Energy Enzymes at some point for SOD2 support to see if you get any benefit from it. Someone on here reported a pretty significant boost from it - got them out of a bedridden state.
    UM MAN likes this.
  8. Valentijn

    Valentijn Activity Level: 3

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  9. abporter

    abporter

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    Reno, NV
    caledonia Thank you for the detailed information and your time. "You should check to see if CBS is expressed or not. You can check by testing, which is high ammonia or a consistently high urine sulfate, or by symptoms, such as not tolerating sulfur meds, supps or foods. Or if you have trouble tolerating methyl supps once you start them. You can get either a stress/anxiety reaction, or one person on here reported a head pressure." Interesting, I started Freddd's protocol about 5 months ago but after taking the minimum he recommended to start of methyl B12 and adenosyl B12 (sublinquals) for 2 days, I was sleepy and in bed much of the day (both days), so I stopped.

    However, I have been able to inject methylcobalamine 1mg/week (intramuscular) without the same reaction. I'm also injecting a subcutaneous Methyl B12/Folate/P5P mixture prescribed from an associate of Dr. Kendall Stewart in Austin, who is a MTHFR doc. However, he didn't ask for any genetic information. This compounded injection has seemed to make me feel a bit better, but may not be what I need exactly, it seems. I've been out of this prescription for the past month, but have a new order coming in this week. Is the testing you are referring to (high ammonia or urine sulfate) something I can have my doctor order? I need to review which foods, meds and sups are related to sulfur to see if I'm tolerating them or not. What does a stress/anxiety reaction look/feel like? Thanks again!

    Valentijn Thank you for the link! I will check it out...
  10. caledonia

    caledonia

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    Stress/anxiety feels exactly like you're having a stressful week at work, deadlines, family issues, etc. I get stuff like tight, painful trapezius/neck muscles, feeling a choking sensation in my throat, butterflies in my stomach, etc.

    Ammonia is on the Nutreval test. I'm not sure about regular doctor type testing. You can measure urine sulfate yourself with the urine sulfate strips. There's a link in my signature. If they go up, then down, say a day or two after you eat sulfur foods, that means you excreting the sulfur and you're ok. If the sulfur reads high consistently over several days, then you're congested at the SUOX enzyme and it will need support.

    Somebody asked about ammonia and how that relates. Ammonia also runs through the SUOX enzyme. So either ammonia, or sulfur, or both, can be bottlenecked at SUOX. This causes problems, and that's why you have to spend some time reducing both of them and then supporting SUOX to drain (with molybdenum). I still take some SUOX support on an ongoing basis.

    If you look at a methylation diagram of the transsulfuration pathway, you'll see that CBS is at the top, and SUOX is at the bottom.
    abporter likes this.
  11. abporter

    abporter

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    Reno, NV
    caledonia Thanks you for your feedback! You're a wonderful help. :)
  12. abporter

    abporter

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    Reno, NV
    @caledonia I mean, thank you for your feedback! (grammar check SNP).
  13. abporter

    abporter

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    caledonia "The various GST genes control glutathione. You have lots of problems there, and will require more glutathione than usual." At the same time, glutathione contains sulfur, which is to be avoided for my CBS upregulation. So perhaps I should wait on injecting glutathione/ATP (which is supposed to arrive this week) until I see if CBS is a problem for me and then under control? Finally I got the http://www.livingnetwork.co.za/chelationnetwork/food/high-sulfur-sulphur-food-list/ link to display. Thanks for sharing this. Many of these high sulfur foods are recommended for me to eat for my 'First Phase Detox' polymorphisms in my detoxigenomic test. So my sulfur may be high. Seeing how I feel on a sulfur free diet may tell me something if my levels are high. But I know going off of Sam-e in the past has made me feel worse. Just trying to make sense of all of this. I guess the only way to find out is to try the sulfur free diet and see how I feel as your Thiol link says. Is there a cheaper way to test for ammonia than the NutrEval test at $761?
  14. Valentijn

    Valentijn Activity Level: 3

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    There is no CBS upregulation of any significance. Whereas glutathione is a real thing, and is important. Support glutathione, don't worry about a mythical CBS upregulation based on Yasko not being able to accurately read research.
  15. caledonia

    caledonia

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    Some people do ok with direct glutathione supplementation, and some don't. I don't know if CBS plays into that or not. So if you can start low to test it that would be best.

    I'm thinking with the methyl supplementation you've already done, which is at "normal people" doses, CBS is not a problem for you.

    The Nutreval is 5 or 6 tests in one. Yasko uses one of those tests - the UAA (Urine Amino Acids) to test for ammonia and taurine. So that should be cheaper.

    http://www.dramyyasko.com/resources/autism-pathways-to-recovery/chapter-4/
    I forgot to mention, that CBS + BHMT is worse. You don't have too much going on with BHMT, so maybe that's helpful for your CBS.

    I only have one mutation on CBS C677T, but I have all the BHMTs, and maybe that made enough of a difference to give me problems. Just sort of hypothesizing here.
  16. caledonia

    caledonia

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    Valentijn - Question - if CBS upregulation is insignificant, how would you explain that I had problems with doing methyl supps and that doing a CBS protocol was helpful in enabling me to tolerate them?

    Do you think BHMT would play into it? Have you done any research in that direction? I have CBS, plus mutations on all the BHMTs. SUOX unknown, but it's pretty rare, so not as likely. You can see my exact SNPs at the bottom of my signature.
  17. Valentijn

    Valentijn Activity Level: 3

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    The research has pretty much ruled out upregulations as 1) being significant at all, or 2) capable of causing any problems. Thus I would guess that methyl problems come from "somewhere else" :p

    I'm curious as to why anyone would think CBS is causing these problems - and the only answer is "because Yasko says so". And the reason Yasko says so seems to be rather far-fetched conclusions made by matching up research which is completely unrelated to the CBS SNPs being tested. Reading through the literature reminded me of the one time I watched Glenn Beck's show, and he was touting wild conspiracy theories based on a certain person being in the audience when someone else gave a speech.

    There is simply 0 logic or rationality behind the conclusions that are presented about CBS. It's not a matter of weak or contradictory studies. It's a matter of a study with half of the gene being removed in a lab yeast, which doesn't involve CBS C699T at all, being used to assume that having a very common variant of C699T will somehow have exactly the same effect as having half the gene removed. It's completely nuts.

    It's especially worrying because the Yasko advice is to basically remove all cysteine production, which has huge implications on its own, and can also result in glutathione production being impaired. The research doesn't support her theories, and basic biochemistry makes her theories look capable of being quite harmful.
    There's no research indicating that the BHMT-02 or BHMT-04 have any effect, and the effects of BHMT-08 are quite mild. The biggest risk of slow BHMT-08 in the real research comes from elevated homocysteine, but with the faster (+/+) version of CBS C699T, it's probably being dealt with adequately on its own.
  18. abporter

    abporter

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    Reno, NV
    Valentijn
    caledonia

    A delayed thanks for your input. I had to take a break from my computer most of the day as being on too much drains my energy and gives me a feverish feeling (I'll have to head over to the symptoms forum sometime). Ironic, as I used to be a computer programmer and was getting into videography. I do have some questions or thoughts but don't want to push myself, so I'll be back later. Peace to you both.

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