The 12th Invest in ME Conference, Part 1
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Help with interpreting SNP results

Discussion in 'Detox: Methylation; B12; Glutathione; Chelation' started by FreudianSlip, Mar 28, 2013.

  1. I have been battling a slowly progressing CFS, since 2007, that became quite disabling a year ago. I believed it was caused by a idiopathic reaction to a large course of Levaquin (a fluoroquinolone antibiotic). Although I did not have an acute reaction, it caused disruption in my ability to sleep (insomnia), eat properly (gut dysbiosis, IBS, food intolerances, gastroparesis), hormonal imbalance, autonomic issues, anxiety, etc...

    I recently ran my 23 and me results that I had for several years for ancestry research through the Genetic Genie and I am requesting some help with interpretation.

    Forgive my ignorance but frankly trying to make sense of this while dealing with brain fog has been quite a challenge.

    Below I have included my Genetic Genie methylation. Although I have been reading up on the affects the each SNP can have, I am having difficulty linking them together.

    I do have an over stimulated stress/cortisol “fight or flight” response. I do not however have problems (that I know of) with ammonia. I have had my ammonia levels checked during routine blood work (assay of ammonia) several times in the last year and it comes back almost 0, whether that makes a difference or not I do not know.

    Would it behoove me to monitor my urine sulfate? And if so, would I use strips for that?

    Anyway, I would appreciate any general insight that anyone could give me :)

    Methylation Results _ Print.png
     
  2. ninauae

    ninauae

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    Well done as these results are better than mine. :thumbsup: I think for cortisol level try Saliva Rythum plus from Genova Diagnostic Lab as may be cortisol and adrenals are causing u a problem. Anyway best of luck.
     
  3. Symptoms so far are: severe fatigue. complete exercise intolerance, autonomic issues; such as tachycardia, BP variations, gastroparesis, labored breathing, mild left ventricle dysfunction, brain fog, insomnia, anxiety, easy startle reflex, also food and drug intolerances, transient muscle and joint pain. These are the ones I can remember right now :aghhh:

    Also, I am assuming one can still have methylation problems without the MTHFR variations?
     
  4. caledonia

    caledonia

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    Wow, you have some of the cleanest SNPs I've ever seen. More later after my nap.
     
    GoodVibesOnly likes this.
  5. Thanks Caledonia, my mother always said that I had good genetics :) However, I went from bicycling ten miles a day and being able to bench press 300 lbs, to hardly able to walk across the room and now virtually housebound. :(

    I have attached my Genetic Genie detox profile side by side with the methylation profile. The detox profile has a bit more color in it.

    Detox Profile Results _ print.png Methylation Results _ Print.png
     
  6. dbkita

    dbkita Senior Member

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    Like Caledonia said that is one of the cleanest profiles I have ever seen.

    Especially when you consider the VDR Taq haplotype you have is the wild type as explained in my VDR alleles thread. The author of Genetic Genie labels that as +/+ to be in alignment with the Yasko notation since else the Yasko(ites) would be screaming at him for calling it "normal". Why the wild type would be considered 'defective' is beyond me. Anyways what I am saying is your "red" VDR Taq is really essentially a green!

    You have several BHMT heterozygotes. Hard to assess their impact alone. But ... your CBS gene is a problem (ammonia, sulfites, possibly H2s). Especially since your BHMT is downregulated. In comparison I have the same three BHMT mutations but homozygotes to go along with a the homozygous CBS mutation. Turns out a 24 hour urine sulfate test shows I am swimming in urinary sulfates. Not good.

    You may have a functional block from some epigenetic trigger or some other genetic framework issue for poor methylation or poor detox, but those SNPs listed I wager, have not much to do with your symptoms. No way imo CBS alone is doing what your describe symptoms wise. Sorry to say.

    Either you need functional data on the status of your folate / methylation cycle, or you need to look at other factors like endocrinological issues, infections, autoimmune diseases, etc. Or both. Except for the CBS / BHMT connection there is not much burning there. For comparison even ignoring the VDR Taq notational mess, I have 14 mutations on that same panel, seven of them homozygous. Even then I doubt genetics is the major factor (except my CBS / BHMT combination is a pain in the *bleep* with respect to ammonia production).

    Good luck and God Bless!
     
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  7. ahmo

    ahmo Senior Member

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    Hi FS. Given the other replies, I have one thing to add. Have you tried going gluten and dairy free? This is the thing that stopped my progressive downward spiral. Before, I was too ill to tackle methylation issues. My brain was on fire, autonomic and nervous systems so over-active that my life became unbearable. 3 days beginning GAPS diet my system calmed. I continue to improve, now in my 2nd year on the diet. My diet is v limited because of my sulfur and histamine intolerances, but I'm healing. Best wishes, hoping you get an answer here that works for you. ahmo
     
  8. dbkita

    dbkita Senior Member

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    I second the importance of diet. Especially the gluten. If you have gluten intolerance, or worse Celiac's, gluten is throwing gasoline on the fire of your ANS every day. Diet is a major factor. Gut health is a big issues probably for all of us on these forums. But in crisis mode dietary changes can have as big an effect as supplements.
     
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  9. caledonia

    caledonia

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    Ok, I'm back. I would have to agree with Dbkita, based on your SNPs, you probably don't have a genetically triggered methylation problem. However, like you're thinking, that still doesn't rule out methylation problems. BHMT is an area you might want to consider some supplementation for. That's the secondary methylation cycle. If the primary one is down (getting to that in a minute), and the secondary one has genetic problems, that could explain the ME/CFS.

    If you look on the more complex methylation cycle diagrams, you can see where lead and mercury gum up the works at the MTHFR / MTR junction.

    Heartfixer also says that lead and mercury can upset the GABA/glutamate balance and cause excitoxicity. Aluminum is also implicated in this too. There is a whole section on how to treat this imbalance. A simple place to start is with some GABA or theanine supplementation (GABA is the precursor to theanine).

    Levaquin is notorious for causing some really bad reactions. I did some reading and apparently you can get fluoride toxicity if it's taken in tablet form through the stomach. I would consider it the same as having a toxic chemical exposure (which is how I got sick). Unless the exposure was huge, I would guess that it was not the sole cause, but more like "the straw that broke the camel's back". In other words, there have to be other exposures or factors in addition to the fluoride toxicity.

    Fluoride will also block the iodine receptors on your thyroid. Mercury can also impact thyroid function. If the thyroid is malfunctioning you should also suspect adrenal problems. These can have a big impact on energy. Poor adrenal function can cause autonomic problems.

    You have some "slow metabolizer" type SNPs in your detox SNPs, but I'm not as familiar with that one. You have about as many mutations as I do.

    =-==-=-==-=-

    Okay, so what to do?

    1) If you haven't already addressed the gut, do this first. You need to be able to absorb nutrients to heal. A general gut program would be probiotics, a gluten free/dairy free diet, digestive enzymes and betaine hydrochloride if your stomach acid is low. You can do the "baking soda burp test" (google it) to see if your stomach acid is low or not.

    If that's not helping, you can do a comprehensive gut test for candida, parasites, etc., then if something shows up, address them separately. For leaky gut (which causes food intolerances), I did the Allatess test and then avoided all my allergens for a year. I can eat a lot of them now. You can also do food rotation. Allatess also offers drops custom made for your allergies, but I decided not to do that part.

    2) For sure, get tested for heavy metals. The Doctors Data Urine Toxic and Essential Elements test is a good one.

    3) If metals show up (I'm suspecting this in your case), then you can address that by chelation, and possibly careful removal of any mercury fillings. I did a supplement called Chelex over a six month period, then retested. I started out with something like 1/8 or 1/16 of one pill, twice a week and gradually built up to a full pill, twice a week. That did the trick and was at a level I could tolerate. Make sure your gut is working first and you have your mineral levels built up before chelating, because it will pull out minerals along with the metals.

    4) Get a complete thyroid panel not just TSH - that's TSH, free T3, free T4 and thyroid antibodies. The TSH can look normal while the others are out of range, so you need to look at all of them.

    5) You can "clean off the iodine receptors" by doing high dose vitamin C. I used BioEnergGy C which has some ribose in it to help buffer the vitamin C. Between that and mercury chelation, my thyroid antibodies dropped to normal, although I'm still on a thyroid medicine.

    A good naturopath or holistic doc should be able to help you with all of this.
     
  10. dbkita

    dbkita Senior Member

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    I would just add to Caledonia's list that you get your adrenal hormones tested as well. Find an endo that will test not only cortisol, but aldosterone / renin, progesterone, pregnenolone, ultra sensitive estradiol, DHEA-s, and testosterone. Maybe even LH, FSH, ACTH. The issue is not the individual numbers alone but to see how your adrenals are doing. If many or most are low (functional low not endo allopathic crazy low) then your adrenals are under siege. The culprit is almost certainly your immune system. Caledonia gave great battle plan, but if you have a chronic infection or autoimmune disease at the root then those strategems will not do much of anything.

    One more thing. Get a reverse T3 reading along with the thryoid tests Caledonia mentioned.

    While treating the CBS / BHMT path could be helpful, it does not explain imo the symptoms you describe. Besides your BHMT genes are heterozygote. Something is hammering you. Get off the gluten asap to get that process started in the mean time while you deliberate on other things.

    Trust me I would kill to have your methylation path genes. *sigh*
     
  11. Thank you all for your replies, especially caledonia and dbkita for the excellent detailed information. You have definitely given me some good areas to start working with. :thumbsup: I have had gut problems for the last few years and have been eating a gluten free diet. I did get tested for Celiac (negative) from my gastro doc but noticed that after this whole mess started gluten was given me aches and pains so I stopped it. I did not consume much dairy but when I did I was drinking lactose free milk although I have not ceased dairy. I will look at the GAPS diet plan and ceasing dairy, and try the other diet tips provided.

    My gastroparesis is getting worse in conjunction with my fatigue and now proteins and certain fats cause severe stomach ache like pains that can last for hours. I did have a gastric emptying test done in late 2011 and it showed mild gastroparesis at the time. That is double edge sword for trying to get things properly into the gut. I did get a juicer the other day am going to start juicing to get the necessary nutrients. I figured that I will also mix in necessary vitamins, etc.. to see if that will help getting then into the gut.

    Now to make a plan of action :)
     

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