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Seeking input in my 23andme results

Discussion in 'Genetic Testing and SNPs' started by trollo, Jun 5, 2013.

  1. trollo

    trollo Senior Member

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    Hello everybody here. I m new to this forum. I recently had my 23andMe results and had no idea of what supplements should i assume on the base of my results. A friend of mine told me that here there were people able to help me. I live in Italy and i'm not able to find a Dr who treat this kind of things...

    These are my results:

    As homoziogous:

    MTHFR A1298C
    VDR Bsm
    MAO-A R297R
    BHMT-02
    BHMT-04
    BHMT-08

    As heterozigous:

    COMT V158M
    COMT H62H
    ACAT1-02
    MTRR A66G
    MTRR A664A
    SHMT1 C1420T


    I don't understand if i can proceed with Metafolin and methylB12 or if i should not because of other polymorphisms... Genetic genie is not totally clear. Also i m concerned about any possible risks. Also about BH4, is it risky or not??? Some claim researches found it very safe, but i read in the ben Lynch forum of a person who got eyes hemorrhage because of BH4...
    I m a possible adrenal exhaustion sufferer (did saliva test), and possible leaky gut. Long time depression sufferer, and since some years i suffer of fatigue and lethargy. I never had benefits from antidepressants.
    Last year i followed a theraphy of supplements: B6 200mg, folic acid 2.5 mg, b12 2000mcg, magnesium 800mg, zinc 50 mg, fish oil and flax seed oil. All without benefit. Instead i got a long (5 monthes) mild fever, but i can not be sure it was related to supplements. I recently found out that VitC helps me with fatigue/lethargy, but just 250 mg x day, if i take 500 mg or more i got sleep problems...
  2. trollo

    trollo Senior Member

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    There is something wrong into this post, as it seems it s being totally avoided???
  3. trollo

    trollo Senior Member

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    Meanwhile i found out about them http://www.autismnti.com/home.html, id like very much to have some opinion from people, there is somebody who know something about them??? Thanks
  4. juniemarie

    juniemarie Senior Member

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    Welcome to the forum Trollo Stick around theres a lot of info here and people who know lots about this stuff. Keep posting and when your not getting answers go to the google site at the bottom of the list of groups and do some searches
    Yasko feels that SHMT and ACAT mutations should be addressed first. I see you are +/- for both of them She says if you have both begin with SHMT and then move on to treating ACAT.
    She says "SHMT often shifts the methylation cycle from both the long and short routes into a side reaction that leads to a production of thymidine"
    Seems to be recommending Actifolate & iron to try and shift methylation activity back to the short and long routes around the cycle.
    When I get time later today I will post some links for a Yahoo group and a couple of other places where you can read more about whys to treat these mutations
    In the meantime do some googling here on the forum and you should go back to Ben Lynch's forum and post questions there as well
    NO from my reading you should not take BH4 That is a last resort and only considered after you have gone through the stages of treating all your defects and are still having problems.
    There is a step by step process to all of this that you should familiarize with before you start anything.....that could possibly make you feel worse.
  5. caledonia

    caledonia

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    Watch/read all the links in my signature starting with the Methylation Made Easy videos and you'll know a lot more on how to proceed. Don't just start taking stuff without knowing what you're doing or you can make yourself worse.

    In general, you would start with SHMT and ACAT, then you should be able to move on to MTHFR, MTRR, and BHMT. There's a nice chart in Yasko's new Simplified Roadmap (link below) that summarizes what kind of B12 to take based on your COMT and VDR combination. With COMT, you have to be careful not to crank up B12 too high or you can get mood swings.

    ACAT is complex to treat. Yasko makes an all in one supplement combination for ACAT that you may want to consider. It sounds expensive, but when you think of all the separate supplements you would have to take instead, it's actually cost effective. Plus you only have to take one pill instead of 9, which is great if you're not a good pill swallower. http://www.holisticheal.com/acat-bhmt.html

    Definitely save BH4 until the very end, and only if necessary.

    If you're overwhelmed with all of this, you may be able to find a doc to consult with via phone/Skype at the MTHFRsupport.com doctors list. http://www.mthfrsupport.com/practitioner-2/
  6. trollo

    trollo Senior Member

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    Hello. Thanks for the responses. I've been in contact with one Dr suggested by the Mthfr support group and i left him before booking the consult because my impression on his behaviour and professionalism was VERY bad!! Also tried to contact Tim Jackson but when i asked him about the disclaimer on his response on the fact that i were 'supposed to take no one of his suggestions as medical advices' he suddently stopped to respond.... and this didn't seem to me as good sign... Ben Lynch forum seems closed to me...

    About what you say on SHMT and ACAT: how can i know when these are adressed and i can move to others??? Is Actifolate simply L-methylfolate?? If so i d prefer Solgar metafolin, remember i'm in europe... i don t understand, you suggest Actifolate and iron, or that mega-expensive one??? Also i d prefer to avoid meat derived glandular extracts if not strictly necessary. There are there far more than only 9 supplements!!!!
    I thought (just on the base of the genetic genie suggestions) that heterozigous defects were not necessarily critical as homozigous ones...

    I must say i tried to browse a bit but my damn brain fog makes really hard trying to figure out things (and also reading...) so i tried to find a practitioner... but they seem outrageously expensive!!!! About videos as i'm italian i find hard to understand them, i find more comfortable reading then listening... and american accent makes it more difficult to me..
  7. juniemarie

    juniemarie Senior Member

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    I want to encourage you to go to a couple of the links at the bottom of Caledonia's post . The 2 I am suggesting are not videos so you can take some time and read them over and over until it begins to become clearer. Autism: Pathway to Recovery & Heartfixer. As you begin to understand more jot question down. You can print them out and read them in a comfortable place. Heck I am a native english speaker and thats what I have to do because this stuff is complex. I completely understand as does everyone here the brain fog thing. Thats why its important that you print it and read it when you are up to it, and keep re reading it. Its the only way to finally start to put it together. It feels like you may be in a bit of a panic right now because it is overwhelming and you have the language issue. Try to stay calm and take baby steps, anything else will not get you the results you desire. Most of the people here do not have Dr's helping them with this. There are not many of them and most are expensive, but if you allow yourself the time thats needed to absorb the data and then come with questions based on what you have read from Heartfixer & Yasko the people here can share their knowledge with you. Right now your going in too many different directions.
    You could also try joining the MTHFR Yahoo group....I dont have the exact name but if your interested I can get it.
    No the +/- ones are not as bad as the +/+ but you still need to go through the steps in the order recommended.
    So Please go read the info....then ask the questions
    MMe and Beyond like this.
  8. trollo

    trollo Senior Member

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    Yes, ok i'm trying to doit... Anyway Ben Lynch forum seems inactive since several monthes
  9. roxie60

    roxie60 Senior Member

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    I tried to contact Ben Lynch multiple times a year ago and he never responded but I did see he responded to some people. At the time ou would sign up on his site by sending him a note and he was suppose to respond. I have watched the MTHFR video he created and it was helpful in the beginning to try and understand MTHFR. Notsure why he dd not reply, tried a few times. I moved on, found PR and heartfixer and these have been very helpful it education and support. I find Ben Lynch's site a bit confusing, maybe I was uppose to do something else, if so I didnot figure it out.
  10. trollo

    trollo Senior Member

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    I must say that i known a pair of the 'practitioners' suggested by the MTHFR support group and they are at least controversial... one prescribed to me the Mineral Miracle Solution for my fever.... hope you got what i mean... Another one is a well known 'forum hunter'...
  11. trollo

    trollo Senior Member

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    Evry practitioner i contacted said methylation is a long and expensive path that can't be approached byyourself with a 'cooking-book approach' (exact words from a mail i received)... that's what you are doing here, i think... but, obviously they need our money.
    Then my fear is this: are there any people who had REAL improvements without a practitioner's expensive assistance or (at the opposite) somebody who had bad problems because of self-guided methylation theraphy???
  12. trollo

    trollo Senior Member

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    I ve read the heartfixer article. It seems i should address first BHMT to adress the excess of ammonia, sulfate and sulfite.... he says almost nothing of SHMT and ACAT.... it s a confuse article anyway...
    I didn't understand this: DOES BHMT ACTUALLT BEHAVE AS CBS??? Is the consequence as well high ammonia, sulfur and sulfite??? Should be the sulfite the possible cause of my brain fog??? Are the recomendations for BHMT the same than for CBS?? I mean:
    Low animal food diet (i'm already vegetarian, just rely on eggs and cheese), Yucca and charcoal (is that ammonia RNA Yasko stuff really necessary???). Should i avoid B6??? Should i stimulate my SUOX even if my SUOX results was N/A??? Why my SUOX and NOS are N/A??? What does that mean???

    Wich test should be done, ammonia or sulfate in urine????

    Are you sure i should adress SHMT and ACAT before that BHMT???? Well, i got more questions but i stop here... thanks
  13. PathogenKiller

    PathogenKiller

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    Because of mthfr a1298c, Mao a and vdr being +\+ and COMT(s) +\- you are obviously having challenges with adequate bh4 for all your needs..but it's best to work some kinks out before supplementing it directly.

    FIRST, You likely need trytophan( from food), vitamin d, vitamin k2 (mk-4) and lmethyltetrahydrofolate, plus ammonia detox and digestion support .THEN...I'd add tmg, to try the shortcut then switch to DMG and phosphytidal choline/complex as a second stage. Later, I would even add sam -e even with the Comt because of the VDR and ACAT. I think you can tolerate the methyl donors..(MTRR and BHMT also makes me think Sam-e should be ok, but this a bit of a gamble. In theory you'll get some relief from your depression) Especially if you supplement a non methyl (or cyano) cobalamin.(b12)

    Sorry to say, but I don't think that cheese(especially aged) is helping you, since you don't have enough bh4 you can't process all that tyramine..also a1298c is making less bh4 available for conversion of tyramine to dopamine, so you are likely low, or because of all that tyrosine you eat they could be snatching up bh4 and be quite high... In a weird way, it's good your COMT is is keeping the dopamine you do have from degrading, but your VDR status is preventing you from using vitamin d to make more dopamine and you need may more based on your depression symptoms...what you described is textbook low dopamine. Your MAO means you likely have low seratonin too. I bet the cheese isn't helping your leaky gut either.. Then you have the high in tyrosine eggs that you prob don't have enough bh4 for..This would be a good digestive enzyme for you, triphala is wonderful you and this blend us vegetarian.http://www.amazon.com/MRM-Digest-All-Condition-Vegetarian-100-Count/.

    You can add molybdenum picolinate,( not ammonium) to help with both sulfites(SUOX, since you bring it up)) and ammonia(take the load off BH4) You can also consider low dose ALA and lactoferrin for ACAT. You could consider b6 but if you do, make sure it is p5p and you need riboflavin (b2) with it. Are all your NoS n/a including 2s and 3s? Do you have anything going on with your tyms gene? I always wonder about it when there are +\- SHMT issues but nothing going on with CBS, ESP paired with a1298c. Sterling's app/ mthfrsupport.net reports on this.
  14. trollo

    trollo Senior Member

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    Hello, thanks for the response. but i have understood few of your response.
    Why Mao A, vdr and comt should give me problems with BH4? I'm beginning to read something and for what i understood COMT , VDR taq -/-, and MAO A should be augmenting the dopamine and serotonine levels opposing the low BH4 level. So, please can you explain why you said that, and where did you read those things? Shouldn t i wait to reduce ammonia and address BHMT before adding 5-MTHF? What s digestion support would be? Is Triphala the enzime you said would help my leaky gut?The link you posted isn t working... About stimulating SUOX you said Molybdenum, what about Boron, vit E succinate and hydroxy b12?

    About NOS i posted the result of genetic genie; it gave me nly a few polymorphism. The only NOS it reports is NOS3 D298E. Also my SUOX S370S is N/A and i don t undrstand what it means.

    I noticed all the suggestions done untill now differ one from another. This is making me more confused because i can't understand what to follow.
  15. trollo

    trollo Senior Member

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    So i think i made a bit of order into my mind. Untill now it has been suggested: Actifolate & iron for SHMT.
    ACAT / BHMT - Fatty Acid Digestion / Energy Conversion 180 Capsules for ACAT. Plus the mixed recomendations of PatogenKiller.
  16. Beyond

    Beyond 10% of discount in iHerb!--> PEZ915

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    Trollo, im gonna add some ideas. I dont understand much of this stuff yet, but I think some things could be clear. For SHMT seems a very good idea buying the SHMT spray from yasko, because it contains 1200 mcg of hydroxycobalamin, which will also start addressing other mutations that call for B12, and this form its the most versatile. It has lactoferrin and other useful things. That supplement has a reassonable price. The ACAT pills are incredibly expensive, but they adress BHMT as well, and you have three homozigous mutations of these... So it MIGHT be worthwhile for you. The supplement designed for 1298C its not that impressive, trehalose and nadh will be found cheaper in seromood which you could consider for those and for your homozigous MAO. Everyone says its better to fill in cofactors than to supplement BH4.

    I dont know how effective seromood might be for MAO as yasko recognizes it might be necessary to try low frequent doses of 5htp or something for serotonin with this mutation. One person here found effective for his double MAO eating small pieces of dark chocolate trough the day. I enjoy dark chocolate from Arriba, Ecuador but it aggravates my gut inflammation. Perhaps eating foods high in tryptophan everyday would work. L-methyltetrafolate its the supplement FolaPro, you need this. You will need to discover how you tolerate methyldonors for the short cut trying the ones suggested. I would definetely add to the protocol Neurological Health since it has low doses of these plus p5p and riboflavin and many others and its in the Richvank protocol.

    As PathogenKiller saw, you need gut support. The non-working link of him goes to this product: http://www.iherb.com/MRM-Digest-All-100-Plant-Enzyme-100-Veggie-Caps/4847 but I have read that the digestive enzymes from holistic heal are really good, I have yet to ratify this myself. Personally ye old NOW Super Enzymes work good but they are animal based (which its why they work better). Kefir or real yogurt are very good probiotics, better than most in pills IMO, unless you need bifidobacteria.

    The advice given hasnt been so contradictory. I would take from every comment what you think its useful and of course your own research will be the most important. It seems PathogenKiller has a deep understanding of this stuff.
  17. PathogenKiller

    PathogenKiller

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    I've edited my post so hopefully it makes a little more sense to you. I'm not a practitioner, just someone trying to help out some folks with different chronic illnesses so take all my advice in that light. I rec adding l-mthf in the beginning with ammonia detox and fixing your gut through food and with some digestive enzymes. Triphala won't "fix" your leaky gut but it does the following that I like.. It is high in vitamin c, is an intestinal tonic, a biofilm buster, an antimicrobial, and helps in digestion. When you say leaky gut and ACAT, and BHMT, digestion comes to the forefront for me. I wouldn't treat BHMt first because then SAM-e is going to place more of a strain on your heterozygous COMT. If rather start with A1298c and work outWards, instead of working in to MTHFR. Plus, I think you can do some of this concurrently.
  18. trollo

    trollo Senior Member

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    just want to point out that i used Methylcobalamin for a few monthes and didn't notice any mood swing, nor anything else. I fell ill a week after beginning supps but i started with cianob12 and after a month changed to methylb12.
  19. PathogenKiller

    PathogenKiller

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    That supports the theory that you would be okay with more methyl donors.
    Beyond likes this.
  20. trollo

    trollo Senior Member

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    I PUT MY QUESTIONS IN BIG AND BOLD LETTERS TO MAKE IT CLEARER (IT S NOT SHOUTING)

    FIRST, You likely need trytophan( from food), vitamin d, vitamin k2 (mk-4) and lmethyltetrahydrofolate, plus ammonia detox and digestion support .THEN...I'd add tmg, to try the shortcut then switch to DMG and phosphytidal choline/complex as a second stage. DO YOU MEAN PHOSPHATIDYL CHOLIN RIGHT? WHAT'S DMG??
    Later, I would even add sam -e even with the Comt because of the VDR and ACAT. I think you can tolerate the methyl donors..(MTRR and BHMT also makes me think Sam-e should be ok, but this a bit of a gamble. In theory you'll get some relief from your depression) Especially if you supplement a non methyl (or cyano) cobalamin.(b12) CAN YOU PLEASE EXPLAIN TO ME WHY? DOES VDR, ACAT, MTRR AND BHMT REDUCE THE AMOUNT OF METHYL GROUPS AVAILABLE?

    Sorry to say, but I don't think that cheese(especially aged) is helping you, since you don't have enough bh4 you can't process all that tyramine..also a1298c is making less bh4 available for conversion of tyramine to dopamine, so you are likely low, or because of all that tyrosine (DO YOU REFER TO EGGS? I EAT ONLY 3-4 EGGS FOR WEEK) you eat they could be snatching up bh4 and be quite high (I DON T UNDERSTAND... SHOULD MY DOPAMINE BE SUPPOSED TO BE HIGH OR LOW?)... In a weird way, it's good your COMT is is keeping the dopamine you do have from degrading, but your VDR status (ISN'T THE VDR TAQ WHO AFFECT DOPAMINE PRODUCTION? MY TAQ IS OK, IS BSM THAT IS HOMO) is preventing you from using vitamin d to make more dopamine and you need may more based on your depression symptoms...what you described is textbook low dopamine. DO YOU MEAN JULIA ROSS BOOKS? Your MAO means you likely have low seratonin too (PLEASE LET ME UNDERSTAND CLEARLY... ISN'T MAO-A DEFECT OBSTRUCTING SEROTONINE REMOVAL? SHOULDN T THIS RISE THE LEVEL OF SEROTONINE AVAILABLE?). I bet the cheese isn't helping your leaky gut either.. Then you have the high in tyrosine eggs that you prob don't have enough bh4 for..This would be a good digestive enzyme for you, triphala is wonderful you and this blend us vegetarian.http://www.amazon.com/MRM-Digest-All-Condition-Vegetarian-100-Count/. YOU KNOW IF I REDUCE THAT LITTLE ANIMAL PROTEIN I EAT I BECOME A VEGAN

    You can add molybdenum picolinate,( not ammonium) to help with both sulfites(SUOX, since you bring it up)) and ammonia(take the load off BH4) You can also consider low dose ALA DO YOU MEAN ALFA LINOLENIC ACID O3? and lactoferrin for ACAT. You could consider b6 but if you do, make sure it is p5p and you need riboflavin (b2) with it. Are all your NoS n/a including 2s and 3s? Do you have anything going on with your tyms gene WHAT??? I always wonder about it when there are +\- SHMT issues but nothing going on with CBS, ESP paired with a1298c. Sterling's app/ mthfrsupport.net reports on this.[/quote]


    I NEED TO LINK YOUR SUGGESTIONS TO THE GENES THEY SHOULD BE SUPPOSED TO TREAT, OTHERWISE I M LOST IN CONFUSION.

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