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And another plea for SNP interpretation

Discussion in 'Genetic Testing and SNPs' started by DesertDiva, Feb 27, 2014.

  1. DesertDiva

    DesertDiva

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    Long-time lurker, first-time poster.

    Since 23andme testing last summer, I have not made much progress on my own--6 months on Rich van K’s protocol and could not detect any change, much less improvement. I am hoping that knowledgeable and experienced people here might have comments or suggestions for me.

    Here are my detox and methylation SNPs returned by MTHFRSupport (homozygous are bolded):

    DETOX
    Gene & Variation rsID # Risk Allele Your Alleles & Results
    CYP1B1 L432V rs1056836 C CG +/-
    CYP1B1 N453S rs1800440 C CT +/-
    CYP2C19*17 rs12248560 T CT +/-
    CYP2C9*3 A1075C rs1057910 C AC +/-
    CYP2D6 S486T rs1135840 C CG +/-

    CYP2D6 T2850C rs16947 A AA +/+
    GPX3 rs8177412 C CT +/-
    GSTP1 A114V rs1695 G AG +/-

    NAT2 A803G (K268R) rs1208 G GG +/+
    NAT2 T341C (I114T) rs1801280 C CC +/+

    SOD2 rs2758331 A AC +/-
    SOD2 A16V rs4880 G AG +/-
    PON1 Q192R rs662 C CT +/-

    METHYLATION
    Gene & Variation rsID # Risk Allele Your Alleles & Results
    ACE Del16 rs4343 G AG +/-
    ADD1 G460W rs4961 T GT +/-
    BHMT R239Q rs3733890 A AG +/-

    CBS A13637G rs2851391 T TT +/+
    CBS C19150T rs4920037 A AG +/-
    CBS C699T rs234706 A AG +/-
    COMT rs6269 G AG +/-
    COMT H62H rs4633 T CT +/-
    COMT V158M rs4680 A AG +/-

    DAO rs2111902 G GG +/+
    DAO rs3741775 C CC +/+

    GAD1 rs769407 C CG +/-
    GAD1 rs3791851 C CT +/-
    GAD1 rs3791878 T GT +/-

    GAD1 rs701492 T TT +/+
    GAD1 rs769395 G AG +/-
    GAD2 rs1805398 T GT +/-
    GIF (TCN3) rs558660 A AG +/-
    MTHFD1 C105T rs1076991 C CT +/-
    MTHFD1 G1958A rs2236225 A AG +/-
    MTHFD1L rs11754661 A NO CALL
    MTHFD1L rs17349743 C CT +/-
    MTHFD1L rs803422 A AG +/-

    MTHFR A1298C rs1801131 G GG +/+
    MTHFR rs12121543 A AA +/+

    MTHFR rs13306560 T NO CALL
    MTHFR rs1476413 T TT +/+
    MTHFR rs3737964 T TT +/+
    MTHFR rs4846048 G GG +/+
    MTHFR rs4846049 T TT +/+

    MTHFS rs6495446 C CT +/-
    MTR A2756G rs1805087 G AG +/-
    MTRR A66G rs1801394 G AG +/-
    MTRR K350A rs162036 G AG +/-
    MTRR-11 A664A rs1802059 A AG +/-
    MTRR rs1532268 T CT +/-
    MTRR rs3776467 G AG +/-
    MTRR rs9332 A AG +/-
    NOS1 rs3782206 T CT +/-

    NOS2 rs2297518 A AA +/+
    NOS3 rs1800783 A AT +/-
    NOS3 rs1800779 G AG +/-
    NOS3 rs3918188 A AC +/-
    NOS3 G10T rs7830 T NO CALL
    NOS3 T786C rs2070744 C CT +/-

    PEMT rs4244593 T TT +/+
    PEMT rs7946 C CT +/-
    SHMT1 C1420T rs1979277 A AG +/-
    SHMT1 rs9909104 C CT +/-
    SHMT2 rs34095989 A AG +/-

    TCN1 rs526934 G GG +/+
    TCN2 C766G rs1801198 G CG +/-
    TYMS rs502396 C CT +/-
    VDR Bsm rs1544410 T CT +/-


    My family seems to have methylation issues. We have a lot of autoimmune disease, gut problems, and depression. My father is currently in a nursing home, dying of unspecified dementia as did his father, and my mother was recently diagnosed with lupus. One brother was diagnosed with fibromyalgia and has a lot of migraines; the other has life-long depression and had hip replacement surgery at age 55 due to inexplicable femur necrosis. There is no family history of celiac disease.

    My current symptoms include multiple sleep disorders and my gut does not work well (huge bloating, IBS, poor protein digestion, etc). It usually takes days to recover physically and mentally from even mild exercise. Body aches, anxiety, and life-long depression are kind of a background noise that rises and falls. I have random heart palpitations, maybe twice a week. Constant fatigue and cognitive issues (feeling overwhelmed by everything, dread about interacting with people, difficulty with initiating activity and focusing, brain fog) are the scariest to me. Everything is slowly getting worse over time.

    From the reading I’ve done, it seems likely that I need folate and especially B12, but my symptoms did not improve when taking them along with the usual mineral suspects (Mg, Zn, Se, Mo, K). I’ve never had any obvious food problems other than raw onions, which seems like a very mild reaction if any with respect to possible CBS issues.

    I stopped methyl supplements at the end of January and now take turmeric, probiotics and occasional Mg. Depression is becoming acute, so I am experimenting with SAMe—after two days I feel both calmer and more energized (even if it’s just a placebo, I’m grateful).

    Thank you for any thoughts.


    [edited to correct my misattribution of results]
     
    Last edited: Feb 28, 2014
  2. Aileen

    Aileen Senior Member

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    Canada
    Hi Desert Diva,
    I have never heard of MTHFREASE before. Do they have a program that you run your 23andMe data through? I notice that you appear to have homozygous mutations (if I'm understanding this correctly) for you DAO snps.

    I'm just starting to learn about this. Diamine Oxidase (DAO) is also called Histaminase. It is one of the enzymes that breaks down histamine (inactivates it) in the gut. So, perhaps you have a histamine problem. It is implicated in IBS. I don't know much about this area yet but perhaps you might be interested in taking a look at it.
     
    helen1 likes this.
  3. DesertDiva

    DesertDiva

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    Hi Aileen--
    Thanks for looking at this. Not surprisingly, I mis-spoke about my results being from MTHFREASE; they are actually from MTHFRSupport ("Sterling's App") and the report is like an expanded version of Genetic Genie that costs $20. But even though some of the SNPs have links to research, it's so hard to piece together anything helpful.

    I've read a little about DAO also but have not recognized symptoms in myself, or if they are there, they are subtle compared to other stuff. Have you read anything very helpful or informative about it that you could point me to?
     
    Last edited: Feb 28, 2014
  4. SETARA

    SETARA

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    Hi Desert Diva,

    You might want to investigate the GAD1 mutation. I also have it and was having unexplained heart palpitations and chronic fatigue until my Naturopathic Doctor recommended a supplement that contains Taurine, NAC and Glysine. This genetic mutation appears to result in high glutamate and low GABA.

    We think I may have had a "triggering event" about a year ago when I had an infection. We think it may have been Lyme or some other sort of bacterial infection. Have been suffering from Chronic Fatigue since then. The heart palpitations started about 6 months later in July.

    Went to the ER twice. Ruled out everything serious, but couldn't explain the heart palpitations or how to resolve them. I did a search on PubMed and found a couple of small studies that said Taurine had resolved heart palpitations in about 50% of patients, so I spoke with my Naturopathic Doctor and we decided to give it a try. I started taking a supplement that contains Taurine, Glycine, and NAC and my heart palpitations. I was also starting to experience unusual shooting pains that would radiate up my spine, in different limbs etc. then suddenly resolve after about an hour. My fatigue kept getting worse.

    After I started taking the Taurine/Glycine/NAC supplement, my heart palpitations are gone and my neurological symptoms have started to resolve, so I think we may be on to something. I have been taking it for about 6 weeks now and am greatly improved. I take a product made by Designs for Health called Amino-D-Tox.

    If you want to see if this may be part of your problem, you can try an experiment and bypass the detox problem entirely by taking sublingual Glutathione (Source Naturals makes some that is inexpensive and you put the tablet under your tongue and it dissolves so it gets into your bloodstream quickly). Take it when you first get up in the morning. If you feel like you have more energy after trying it for 5 days, then this pathway could be part of your problem. Don't both with the Glutathione capsules that you swallow, because it gets destroyed by stomach acids. The Naturopaths don't recommend that you take Glutathione directly and recommend that it is better to take the Taurine/Glycine/NAC which help your body convert to Glutathione and help to re-establish the pathway. The sublingual Glutathione is a "jump starter" and shouldn't be used long term.

    High glutamate and low GABA is also related to adrenal fatigue, so that may be part of the equation. This same GAD1 mutation is linked to autoimmune disease and neurological/psychological problems.

    I also have several MTHFR and COMT genetic mutations, but none of those seem to explain the heart palpitations. There seems to be a link to GAD1 and high glutamate and low GABA, so the GAD1 seems to be part of the equation and doing the "recommended treatments" for the MTHFR alone didn't help me much.

    Members of my family have similar symptoms and problems as you described, so this gene may be part of the puzzle piece. I also have non-celiac gluten intolerance.

    These genes aren't fully understood yet, but can lead to a lot of neurological problems and symptoms. See the interesting post at http://chronicfatigue.about.com/od/...Fibromyalgia-And-Chronic-Fatigue-Syndrome.htm . If you google high glutamate and low GABA you'll find a lot more research that appears to be associated with this genetic mutation. Also, http://www.rlcure.com/glutamate2.html and http://www.cortjohnson.org/blog/201...fs-puzzle-the-neuroinflammatory-series-pt-ii/ and http://www.holistic-back-relief.com/glutathione.html all had useful information that help to explain this.

    Hope this helps you! Good luck! Please post again if you investigate any of this and let everyone know what you learned (positive or negative).
     
    ukxmrv likes this.
  5. Critterina

    Critterina Senior Member

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    Arizona, USA
    @DesertDiva ,
    It looks like you'd need methylfolate more than you'd need mB12, from what I can see. Have you also tried Freddd's protocol. Seems like some people get better results from one or the other, and maybe you just started on the wrong one.

    I would suggest Betaine HCl and Ox Bile supplements with meals. If you can pin down what causes the bloating, you can tailor the digestive enzymes to what you're not producing, but my suggestion above is a good generic start. (Now if I can follow my own advice, we'll all feel better. Took off for dinner tonight and left them at home!)

    Some of the other supplements that affect neurotransmitters are: tryptophan, 5-HTP, oh...my brain just went blank! It's past my bedtime and I'm turning into a pumpkin.

    I did want to mention the article "Histamine and Histamine Intolerance" by Maintz. It explains about the DAO enzyme. If you are intolerant, the DAOsin enzyme is available, and can be added to the Betaine HCl. I also have a food list. Send me a private message if you want it (start a conversation).

    Sorry I had to cut this short!
     

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