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Received genetic results -- I'd really appreciate any help

Discussion in 'Genetic Testing and SNPs' started by tim0011, Mar 19, 2013.

  1. tim0011

    tim0011

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    I've had health issues for 3 years now. Severe fatigue, brain fog, comprehension issues, dizziness and 50 other symptoms. This is why I decided to do 23andme testing.

    I'm still learning methylation things but to me this set of SNPs looks quite difficult.

    From what I understand MTHFR 1298 is quite severe mutation and it means that BH4 won't be created. So I'll have hard time creating neurotransmitters.

    BHMT is also highly blocked, CBS means that I'm creating too much ammonia, sulfites.

    I'd be really thankful for any tips on how to solve this.
  2. beaverfury

    beaverfury beaverfury

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    West Australia
    Wow, yours has got a lot more red bits than mine. I'm a novice too, so i can only suggest going to the Heartfixer site. http://webcache.googleusercontent.c...p://www.heartfixer.com/AMRI-Nutrigenomics.htm We assume that you are +/- or +/+ for one of the CBS up regulations and +/+ or +/- for BHMT 1-8, which act like CBS up regulations. Homocysteine (as well as its methyl cycle precursors) is being drawn down the transulfuration pathway, in this process generating too much sulfite and sulfate (which stimulate the stress/cortisol “fight or flight” response), too much alpha-ketoglutarate (which leads to excitotoxin activation), and too much ammonia, which depletes BH4 (leading to insufficient dopamine and serotonin production, and a lack of nitric oxide). To address CBS up regulation/BHMT down regulation we typically recommend: 1. No animal protein diet (anything with eyes) and avoid sulfur rich vegetables, sulfur containing supplements, and sulfur containing drugs (see CBS and Appendix II: Foods High in Sulfur and/or read Sulfites and Chronic Disease by Rick Williams, available at the office or at www.readingtarget.com/nosulfites/. 2. Monitor urine sulfate every 4-7 days. Low levels (400 or 400-800 mg/liter) will allow an increase in methyl cycle supplementation and later the addition of BH4 and/or a liberalization of your diet. 3. To neutralize ammonia, use Ammonia Support RNA, a charcoal supplement at bedtime (away from other supplements; magnesium citrate may be used as needed to keep the GI tract moving as charcoal may lead to constipation), and Yucca. These supplements can be tapered down as ammonia levels fall. 4. Molybdenum to help SUOX break down sulfite into less toxic sulfate. Homogenized dairy products contain xanthine oxidase, which uses up molybdenum, and are best avoided or minimized. Vitamin E succinate, Boron, and B12 are felt to stimulate SUOX activity (SUOX is “overworked” by the sulfite load presented to it by CBS/BHMT - SUOX co-factors become depleted, thus the need for supplementation). 5. Avoid excitotoxins (see list on heartfixer.com) and supplement with GABA twice a day. 6. Minimize B6, which stimulates CBS; P-5-P will be less of an issue.
    katim and ktred like this.
  3. beaverfury

    beaverfury beaverfury

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    West Australia
    Sorry that information is all scrunched up, i'm having computer issues
  4. ktred

    ktred

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    California
    Thanks for that nice summary on dealing with CBS and BMHT mutations.
  5. tim0011

    tim0011

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    Thanks! Do you know what products have BH4 in them?
  6. ktred

    ktred

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    California
    There's a very low dose supplement made by Ecological Formulas.
  7. caledonia

    caledonia

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    With those SNPs, you likely have mental health issues - are you on any psych drugs? If so, you need to be extremely careful because when you start methylating properly your BH4 and neurotransmitters will come back up causing a conflict with the meds. However, you can't just stop taking the meds because you need to taper off extremely slowly otherwise you can have horrible withdrawal symptoms. I know this from hard experience.

    I'm currently tapering Zoloft by 10% every 8 weeks, and very gradually increasing methylation supps. The whole process is going to take 2-3 years.

    Same warning from Heartfixer: "It is strongly recommended that BH4 supplementation be held until all other Methyl Cycle pathways have been optimized....If long-closed detox pathways are suddenly opened up, you could experience a detox reaction, so we need to get the rest of your systems up and running before we open these closed gates. If neurotransmitter generation suddenly comes back on line, and you are taking an anti-depressant drug or nutritional that preserves neurotransmitter levels, you could experience a neurotransmitter surge if we have not cut back on the drug dose."
  8. tim0011

    tim0011

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    Thanks for the response. Yes, you're correct that I have lots of neurological and psychiatric symptoms. Derealization, depersonalization, visual snow, brain fog, comprehension difficulties, memory issues and so on. Not to mention horrible fatigue which keeps me in bed for most part of the day.

    May I ask you what would you recommend me to take for those SNPs and how to proceed? Should I start fixing the sulfurization pathway? Cutting down on sulfur based foods, taking Yucca root, maybe measuring my sulfur levels? I know there are several products like PS, PC, TMG for BHMT support but I still think that BH4 must be huge issue for me...
  9. caledonia

    caledonia

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    Do like Yasko says - start with the First Priority mutations: so for you that's ACAT then CBS. Then you can get into the Second Priority mutations MTHFR, MTRR and the rest. Heartfixer/Yasko are saying to hold off on BH4 until you lay all the groundwork. I would listen.

    I think you can sort of sneak a bit of TMG in there earlier in the process to get the BHMT shortcut pathway going. That's taking one or more of Yasko's General Neurological Health formula. I get a bit of energy from it, so that's nice. Rich talked about this. Also Yasko does in this new simplified protocol document: http://www.scribd.com/doc/132017201/Dr-Amy-s-Simplified-Road-Map-to-Health

    In general, you're going to have to very patient. CBS may take several months to treat if it's expressed. If you get ahead of yourself, you can end up worse. Get the urine sulfate strips first. If that's high, then you need to address CBS.

    What I did is make up a Word Doc with the chart like you posted, then go to Heartfixer and copy in paste in my specific mutations in the order they need to treated. Then you end up with a personalized treatment plan.

    For COMT, you just need to be aware of not overdoing the methyl donors. COMT interacts with VDR Taq to make this better or worse, so you have to look at both of them together. For your combo Heartfixer says: COMT (+/-) and VDR (+/+) behaves like COMT (-/-). So COMT sounds like it's actually not going to be that much an issue for you - yay!

    Oh yeah, one more thing - before you start, have some extended release niacin on hand to stop any overmethylation you might accidentally trigger off. It should be nicotinic acid form and you only need 50-100mg (this is per Ben Lynch). I got NOW brand which are 500mg pill, so you only need like 1/8 of a pill. I had to try it once (took too many Yasko multis with the TMG), and it was great - stopped symptoms within 15-20 minutes.
  10. beaverfury

    beaverfury beaverfury

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    Taking note first of what Caledonia has written.

    From my memory banks, apparently you can lift BH4 by taking high dose methylfolate. A product like Deplin has 7.5mg of methylfolate in it. http://www.deplin.com/

    There are other supplement support strategies as well which might help for BH4. Although i've investigated them i cant for the life of me remember them. It is probably better to slowly get everything working more efficiently as Caledonia has suggested above, and let things lift of their own accord.

    It's amazing what can help with neurofog. I find the GAPS diet and probiotics helps tremedously to get my brain working with more power and clarity. It's impossible to have a clear brain if you have leaky gut issues.

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