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Help Interpreting 23andme Results.

Discussion in 'Genetic Testing and SNPs' started by loring, Jun 9, 2012.

  1. loring

    loring

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    Hi I'm new to all of this and I find it all so confusing. I ran my 23andMe results thru hixxy's program and got the following:

    MTHFR A1298C +/-
    MTHFR C677T +/-
    MTHFR 03 P39P +/-
    MTRR R415T +/-
    MTRR 11 A664A +/-
    ACAT1 02 +/-
    VDR BSM/TAQ +/-
    CBS A360A +/-
    CBS C699T +/-
    COMT H62H +/+
    COMT V158M +/+
    MAO A R297R +/+

    I'm so new to this I don't even know what kinds of questions to ask. I just read the heartfixer page. Obviously I'm going to need to read it several more times. And I have a background in biochem (from ages and ages ago). :eek:

    Based on the info I've seen it looks like I might benefit from B12s, but might be sensitive to methly donors because I'm COMT ++? Because of my CBS + I'm likely to be low in BH4? Does anyone know if any of the above results will affect my glutathione levels?

    Any advice on how to get started on understanding all of this is welcome!
  2. nanonug

    nanonug Senior Member

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    This indicates you are compound heterozygous for the two common MTHFR mutations. This means you are not so good at converting folates into the essential methylfolate form, necessary for methylation. As such, it would probably be a good idea to supplement with methylfolate instead of folic acid.
  3. greenshots

    greenshots Senior Member

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    This is one of the problems with doing it at 23&me. Its alotta work for the savings. You will need to go on heartfixer's site, Dr. Ben's, and others (I added one below) to understand alotta this stuff. but it can be done :)

    Well, to start, if you ran these through Prometheus and then Calico's spreadsheet (instead of the older one on the site) and if these are all really accurate, you have some serious mutations! According to Yasko, the most pressing one is the ACAT since it causes big gut issues and trouble in the kreb's cycle. But I don't know about treating it since we don't have that one in my family, thank GOD! We have too many other ones so got spared in at least one areas.

    Priority for treating snps according to Yasko

    SHMT
    ACAT
    CBS
    then maybe MTHFR and others.

    If you really have all 3 MTHFR's, that seems to be a big concern too. The MTHFR 3 is possibly worse than the C6677T so having all 3 seems like a priority to treat. Not sure if you've tried methylfolate yet but if not, it should come into the picture in the not so distant future. I would think you'd have some serious detox! Especially with the COMT AND CBS! You really need to have soneone good to guide you on these!

    I also don't know if their VDR Taq is the same one Yasko uses since she doesn't look at the BSM part anymore but this plus the COMT tells you about how you'll tolerate methyl donors. If its the same one, the partial VDR helps offset the COMT and you mght tolerate a smidgeon of methylfolate but I'd have to expect some horrendous detox with anything higher and probably methyl b12 too, so I wouldn't even try that one if I were you.

    Then there's a question I just posted about metabolic typing and having a certain nervous system. It may be you wouldn't tolerate any b12 so hard to say.

    The combo of the ACAT, CBS, MAO, COMT, and MTHFR seems like a very tricky line up. Its not common to see them all together and I think only one of the kids in my biomed group even has this sort of grouping but it makes sense since he's the sickest one. And not knowing the BHMT or NOS, there could be more things to complicate matters since they really make a MTHFR 1298 and CBS more problematic. I would spend some time understanding all of this before you do anything. I'd also be super careful about adding in methyls or the more common agents that cause detox or start up or problems.

    The good news is that the sickest kid in our group is now 50% of the way there so no matter how bad they are, they can be overcome!!!


    Here's to healing through knowledge!

    Methylation pathway info
    http://www.autismnti.com/yourbodyschemistry.html
  4. loring

    loring

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    Thanks greenshots. I'll look for the calico spreadsheet. I have run through Prometheus, but I'm so new to the info I'm not sure it helped me. One thing I did notice about Prometheus is that it seems to contradict the 23andme interpretations.

    I've read the heartfixer info 3 times. :p It is slowly sinking in.

    Yes this combo does seem tricky based on the heartfixer & yasko info. So I started working with and MD who is specializing in methlyation and hormone issues. The MD has a PHD who is running the treatment/supplement program.

    I decided to look for an MD because I've tried using mB12 & MethlyFolate and have had some freaky reactions. I plan to post my methlyation biochem results and the treatment prootocol and ask for opinions. Where should I put those types of questions?

    Thanks
  5. greenshots

    greenshots Senior Member

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    The best place to post that stuff is in the methylation section.
    Who is your doctor that specializes in methylation?
    I've never found any that know much beyond the MTHFR's.
    It'd be nice to refer people to someone else so mine isn't overrun.


    Good luck on your journey!
  6. loring

    loring

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    Well I double checked against the calico spreadsheet and what I posted is correct. I don't know about SUOX or NOS. I am sensitive to perfumes and get hives from sulfa based antibiotics, so my money is on the SUOX not being 100%. :confused:
  7. greenshots

    greenshots Senior Member

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    I can't attest to anyone's spreadsheet, but others say it seems legit so thats the only reason I mentioned it. I know yasko uses different names and codes for many of her snps so its hard to know for sure if they will translate. Maybe we need to have a whole group do both and see if they match up but most can't afford that. But the CBS and other defects can lead to your chemical sensitivity. I think theres a whole area in the liver for detox that aren't tested for but could be the reasons as well.
  8. Glenn

    Glenn

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    Hey. I am new to the forum and have just received my 23andme results. I already knew the homozygous A1298C from an earlier test this year. Been going through some forum threads and think I've successfully transformed the 23andme into Yasko-terms, with these being most significant I believe:


    MTHFR +/+
    MTHFR 03 +/+
    CBS +/-
    COMT -/+
    COMT +/-
    MTR -/+
    MTRR -/+
    AHCY-01 +/-
    AHCY-02 -/+
    AHCY-19 +/-
    BHMT-02 -/+
    BHMT-04 -/+
    BHMT-08 -/+

    Not finding much on the MTHFR-03 (P39P) so far.


    Do you know more specifically what this mutation can cause problems with, or have any good sources I can read about it?

    Except for "Associated with lean body mass but not fat body mass in a study of ~1,800 Caucasians", according to SNPedia, the rest of the studies seem to be highly female specific..
  9. greenshots

    greenshots Senior Member

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    I read a handful of papers on this a long, long time ago since one of my son's has a complete MTHFR 3. I think yasko said it was pretty rare but also she posted some articles on this somewhere on her site. I never kept the links but they're out there somewhere. My feeling was that you'd treat it the same way as the 677 and most need the 5 MTHF anyway so I just let it go after that. My brain only has so much usable space :)
  10. Glenn

    Glenn

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    Thanks for getting back to me.

    I tried googling dramyyasko.com for "MTHFR 3" and P39P, but only two results for "MTHFR 3", and they weren't very useful. Seems like I'm in that lucky one percentile for homozygous MTHFR 3, and then additional MTHFR A1298C.

    So if MTHFR 3 is treated in much the same way as 677, I guess I'll have to look for suggestions for homozygous 1298 + 677. I'm on the low side (5.9) for homoysteine though, so at least I don't have that typical high homocysteine with 677.

    Guess the information is either not indexable by google because of access-issue or the information is posted as a non-text image.. The search goes on :)
  11. greenshots

    greenshots Senior Member

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    Your homocysteine won't necessarily be high if you have BHMTs, AHCYs, or the CBS along with the MTHFRs. These defects change that finding and is one reason we don't look at folate and HCY as the lone factors for ruling in Mthfr defects. That's the trouble with this medicine, its so individual that its hard to put into a recipe book for treatment plans.

    We use the methylfolate and the MTHFR A1298c caps to treat each defect and then add in hydroxy b 12 for both its free radical clean up and methylation support (per Dr. Pall, Rich Vank, & yasko's research). That seems like fairly solid coverage to begin with, only in super low doses.

    I think Yasko's people were revamping the articles database last I heard so they might not be back up for a while.
  12. Dreambirdie

    Dreambirdie work in progress

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    SO here are my 23&Me results, for anyone who wants to chime in:

    RED
    MAO A R297R ++
    MTRR A66G ++
    CBS A360A ++


    YELLOW
    COMT V158M +/ -
    COMT H62H +/-
    MTHFR C677T +/-
    MTRR A664A +/-
    BHMT-08 +/-

    AHCY-01 +/-
    AHCY-02 +/-
    AHCY-19 +/-
  13. Anteah

    Anteah Senior Member

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    Same here, just got mine and been spending my entire day off researching. Recent onset of slow-brain doesn't help any. I posted mine as my signature. Didn't expect to have that many, as physically I am relatively well functioning, but I guess my lineup mostly affects the brain. This is all still pretty confusing.
    Dreambirdie likes this.
  14. Dreambirdie

    Dreambirdie work in progress

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    Hi Anteah--Confusing is right!

    I am not willing to figure this out on my own, especially knowing that there are people out there who actually LIKE this kind of brain work out, and will be much better at it than me because of that. (Maybe that's due to one of their genetic nerd snips. ;) )

    When I see these results, what immediately comes to mind is....o_O huh? And then I want to go do something else.
  15. Anteah

    Anteah Senior Member

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    Hi, Dreambirdie!

    I agree, while I can sort of get into it and make it my side project/hobby, I'd also much rather geek out on something else than my health, ideally that is. But it is what it is. Will keep on reading and hopefully one of these days it'll all snap into a pattern in my brain, but so far just compartments full of vaguely related info.

    Yes I do hope someone can comment on our results. Especially I am a bit perplexed by my BHMT situation. And I see you have sort of same thing going on with your AHCY. Wish someone could shed a light on this for sure!
  16. caledonia

    caledonia

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    Yasko says to treat the SNPs in this order: SHMT/ACAT, CBS, MTHFR, MTR/MTRR, BHMT, MAO A, SUOX, NOS, VDR.

    Go to Heartfixer http://www.heartfixer.com/AMRI-Nutrigenomics.htm and copy out the SNPs that you have in the order that they need to be treated. Paste everything in a Word doc. Add COMT and AHCY at the end if you have those. They will complicate things so you need to be aware of how they work.

    Print it out, read it as many times as you need to understand it, and take notes. This will be your personal roadmap.

    Once you get to MTHFR, you may be able to simply do Rich's simple methylation treatment.
    Dreambirdie likes this.
  17. adreno

    adreno 3% neanderthal

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    I am just learning these things myself, but here is my short interpretation. The MTRR mutations means you need MB12. The MTHFR means you need methylfolate. Since it is only +/-, your MTHFR enzyme (which is producing MTHF) is running at approx 70%, so you might just need a little, say 200mcg. The BMHT mutation would indicate that you might benefit from TMG.

    The MAO and COMT mutations means you are not breaking down neurotransmitters very fast, meaning they can hang around and cause overstimulation, so you will have to move slowly. Especially the MAO +/+ means you break down serotonin vey slowly. If you have ever reacted badly to a SSRI in the past, this could be why.

    CBS means you're likely to be producing more ammonia. Yasko recommends a low protein diet for this, and taking Yucca with meals. Also, don't overdo B6 supplementation.

    Here is a short and simple guide:
    http://www.autismnti.com/images/Website-_Yasko_Education.pdf
    roxie60 and Dreambirdie like this.
  18. Dreambirdie

    Dreambirdie work in progress

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    caledonia: Thanks for your help with this. It feels a bit more manageable to have a plan, though still daunting to take it ALL in. WOW! I am sticking to wrapping my head around the CBS defect first.

    adreno: I am wondering if the MAO and COMT defects are why I need to take so much L-tryptophan for sleep...? My worst symptom by far is ongoing insomnia, so I am really looking forward to correcting these.
  19. adreno

    adreno 3% neanderthal

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    Actually tryptophan is a precursor to serotonin, and MAO is the enzyme that breaks it down. This should mean that you are less tolerant of tryptophan (more sensitive). Maybe you are not producing enough serotonin because of a lack of MTHF, and then when you start supplementing that, your serotonin increases, and you get overstimulated. So I would cut down on the dose of tryptophan as you add or increase MTHF.
  20. greenshots

    greenshots Senior Member

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    that sounds right, in theory, only the MAO ++ and COMT++ seem to have a negative feedback reaction. If you are saving too much serotonin with the MAO ++ or dopamine & nor epi with the COMT ++, your feedback mechanism kicks in, much like it would for thyroid hormone and the message is "Stop the press! We have too much coming down the pike, no need to make anymore", which is why Yasko, Rich, Mullan, and my doc have all noted that these people tend to need more serotonin instead of less.

    This can also happen when you take the serotonin boosting supplements or eat something with alotta tryptophan, like bananas. You'll slow down production since more is coming in and the enzyme can't really clean it up. This leads to serotonin swings so its not surprising you'd feel like you might be low.

    I'd say Caledonia's right on target with the order of treating them. the only difference is that Yasko always pushes the BHMT before the MTR but I don't really see how you can do that since you need B-12 right off the bat and that should trump TMG for sure. I think where that order really matters is when using DMG vs. TMG since like Adreno said, with a BHMT you should have the BHMT treated with TMG. And this should be before you would ever add in DMG. Either way, that MTRR you have isn't that alarming. I'd just get more hydroxy on board to help with scavenging up free radicals and supporting that region. Just start with low doses of methylfolate and the hydroxy and find your own sweet spot. It doesn't have to be heavy doses for everybody, just what's good for you once you've gotten past the detox.

    Now if you have an SHMT mutation that will trap folate even more and impact that MTHFR 677. You can only guess right now but if you have a big strep history or alotta gut issues, chances are you have the SHMT. Also, heavy metals slows down the MTHFR and MTR/MTRR down more so your 70% could be much lower if you have the SHMT and a history of lead or mercury build up. Its a huge game of one thing leads to another, and another, and so on. Another example is your CBS. My doc doesn't even do much for the minor CBS A360 unless you had a full defect AND had a defect in the BHMT and the NOS enzymes. Its the CBS C699T that's more of a big deal. But either way, if you read Dr. Pall on the NO/ONOO cycle, its about getting hydroxy B-12 & antioxidants on board. I wouldn't do the CBS RNA or anything.

    Sorry, I've got to leave for work but I feel for you, I had a very hard time in the beginning too!
    Dreambirdie likes this.

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