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What is the best way to post my 23andMe results and get feedback?

Discussion in 'Genetic Testing and SNPs' started by Gingergrrl, Aug 13, 2014.

  1. Gingergrrl

    Gingergrrl Community Support Volunteer

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    I have a question for the SNP gurus on PR... I got all my 23andMe results back this week and plugged them into genetic genie, Promethease, etc.

    I have an overall basic understanding of what I read but would love some additional feedback. I know a lot of people are posting this request so I don't want to overload you guys in this forum!

    Therefore, I was wondering, what is the best and most concise/productive way for me to post my request? Should I type out the whole genome or just include the mutations w/some questions that I have?

    I want to be focused and my main goal is to use the 23andMe data to guide my future supplement regime and treatment to it's maximum potential and also avoid things that could be harmful to me.

    Thank you in advance and I am appreciative of the level of expertise in this forum!
     
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  2. Gingergrrl

    Gingergrrl Community Support Volunteer

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    I haven't posted anything yet b/c I was trying to figure out how to post the genome without showing my name and @Sushi gave me some great ideas. Unfortunately I am computer illiterate (or close to it!) so I am waiting until my husband has a chance to help me with this.

    Once I do, I will post the genome and tag the SNP gurus which I also forgot to do in my original post. When I post it, I will include my questions and hoping you guys can give me some feedback. 23andMe was interesting but so far just academic to me b/c I am not scientific enough to know how to translate it into practical use.
     
    victoriana likes this.
  3. caledonia

    caledonia

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    @Gingergrrl
    I'm going to be posting a SNPs Interpretation Guide in the next few days, so be on the lookout for that.
     
  4. Gingergrrl

    Gingergrrl Community Support Volunteer

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    @caledonia Thank you and I will be on the look-out for the SNP Interpretation Guide. I have had so much other stuff to do that posting the 23andMe fell to the bottom of my list but at some point within this century I plan to post it w/a few questions and will tag you and the other gurus for some feedback.
     
  5. Gingergrrl

    Gingergrrl Community Support Volunteer

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    @Valentijn @caledonia @Critterina @Sea and all the other gurus, I am finally posting my Genetic Genie results both the Methylation and Detox Profiles and am sorry it took me so long!

    I am hoping, @Valentijn, that this gives you the info that you need for your mutant army , I mean, research :lol:. I am also hoping that the SNP gurus can give me some feedback on what my results mean in regard to methylation and any other mutations that I have.

    I had that serious over-methylation incident and in general I take much lower micro doses of meds compared to other adults. I was wondering if anything in my genetics indicates why this is? I also had a neurotoxic reaction to Levaquin in 2010 and had been told there is a gene related to this but not sure which one it is?

    I am particularly interested in what else I can do for dysautonomic symptoms such as shortness of breath/tachycardia when standing/walking. People have recommended Taurine to me but I am not sure (based on my genetics) if this is a good or bad idea?

    It looks like my +/+ mutations are COMT, MAO-A, BMHT, CYP1A1, and CYP2D6 but not sure what this all means?!!! I also have a lot of +/- mutations and a lot of "no-calls."

    Any help and guidance would be greatly appreciated!!! Thank you in advance.
     

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    Last edited: Sep 8, 2014
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  6. caledonia

    caledonia

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    :lol::lol::lol:

    Use the SNPs Interpretation Guide linked in my signature below. I will try to answer your questions for stuff not covered in the Guide.

    There's no way to determine who is going overmethylate on what dose from your SNPs, or even from functional testing. It's one of those trial and error things, so that's why it's best to Start Low and Go Slow.

    You have many CYP2D6 mutations, so that's where you're likely to have trouble with meds.

    The levaquin (levafloxin), and other fluoroquinolone antibiotics go through CYP1A2. Interestingly, you don't have any mutation there. Perhaps there are other CYP1A2 mutations affecting this, or just your general lack of glutathione from MTHFR C677T, MTHFR A1298C, MTR, MTRR and GSTP1 which caused your problem. Glutathione is what your body uses to detoxify chemicals.
    Taurine is used for calming and to slow the heart rate. Some people develop taurine wasting, so they're excreting all of their taurine. Taurine supplementation could be helpful in that case. At one point, I was taking a boatload of taurine, to help with racing and pounding heartbeats waking me up during sleep. After some time on methylation, I no longer need to do this.

    You can see if you're wasting taurine via the Nutreval test.

    Taurine is produced in the CBS pathway, where glutathione is also produced. Based on your SNPs, it's somewhat possible you could have problems in your CBS pathway, based on BHMT mutations (you have no CBS SNPs).

    Use the SNPs Interpretation Guide to find out what this all means. Yellow or +/- mutations are just as important as red or +/+ mutations.
     
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  7. Gingergrrl

    Gingergrrl Community Support Volunteer

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    @caledonia

    I printed this out a few weeks ago and absolutely swear and promise that I am going to read it very soon!

    I did not realize that and it is good to know. As soon as I get the go-ahead from my doctor, I will be re-starting methylation at a very slow pace.

    I will read more about this in your guide and not sure yet what the CYP mutations are but will study this.

    That makes sense!

    Do you think from my mutations (in the absence of having done the Nutreval test) that I could benefit from Taurine (or at the worst it would not be harmful?) My tachycardia initially began in Jan 2013 as racing and pounding heartbeats in my sleep (exactly as you described) that were up to 170 bpm. If Taurine is calming and can slow the heart rate it sounds like a positive thing for me.

    I will definitely do that. I did not realize that the yellow mutations were as serious as the red ones. Last, in your opinion, is NutraHacker a good website as far as advising which supplements to take or is it a waste of time and money? Someone had started a thread on this a few weeks ago but I can't remember if you posted there. I apologize if I already asked you this!
     
  8. Sea

    Sea Senior Member

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    Valentijn will probably respond when she is able to, but she has a program that you can run your results through that will pull out a file of snps of 1% or less frequency, and 10% or less frequency. These rare snps are where you can often find some interesting information to follow up.

    Also, if you're happy to send your complete file to Valentijn she can incorporate it into her research comparing ME/CFSers with healthy controls.

    The "no call" snps you have in your Genetic Genie report are because 23andme have changed the number of snps they report from 960 000 to around 600 000. So for those that have a no call result 23andme no longer test them.

    If you look directly at your 23andme data though and find a no call result for a snp it means that snp was tested for but a result could not be determined accurately. We all have a few of those.
     
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  9. Gingergrrl

    Gingergrrl Community Support Volunteer

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    @Sea

    I actually sent my complete genome to @Valentijn this morning and am happy to be included in her research and so impressed that she is doing this. I will let her respond here but when you said that she has a program to run my results for rare SNP's, is that something I can do or something she does herself with the data?
     
  10. Valentijn

    Valentijn Activity Level: 3

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    The program can be downloaded at http://sourceforge.net/projects/analyzemygenes/ . It's a small file and fast download and does fine with PCs, but some Mac OS versions won't like it because we're not paying $100 to get registered as a trusted developer.

    I mostly use the program on a larger scale, to get everyone's rare results and then see which ones are showing up in many different patients. I used to look at the rare ones for everyone on an individual basis, but haven't had the time for that lately :p You can look up your rare results at http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs= to see what gene they're on, if there's a missense mutation, and if there's research regarding that SNP.
     
    Last edited: Sep 10, 2014
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  11. caledonia

    caledonia

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    I think taurine is a fairly safe supplement to just try out. Start with one or even less, to test the waters. Muscle test the unopened bottle first if you've learned how to do that, to make sure it tests good for you. I was taking the max amount my naturopath would let me - something like 8 pills a day or even more (can't remember exactly).

    Note that I was taking the taurine throughout the day (4 times a day) to help with sleep at night. So just taking one pill once in the morning or something probably wouldn't do much for heart stuff during sleep. But that is good for a test run just to make sure you tolerate it.

    I've checked out the free version of Nutrahacker and didn't find it that useful. There was contradictory information, so that made it confusing.
     
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  12. Gingergrrl

    Gingergrrl Community Support Volunteer

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    @Valentijn I have a Mac and not sure if the program would work for me? I mostly wanted to make sure that you had my data for your project so you could compare my mutations to other PWC's. I will look at both websites that you linked later when I am more alert! What is a missense mutation?
     
    Valentijn likes this.
  13. Gingergrrl

    Gingergrrl Community Support Volunteer

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    @caledonia

    Do you remember how many milligrams were in each pill?

    Thanks! I have some test results pending with my doctor and he told me not to add Taurine or re-start the methylation supps until they are back but once I get the go-ahead, I am definitely going to try it.

    Thanks and I have been hearing a lot of mixed opinions on it (plus it seems expensive!) so I doubt I will do it.
     
  14. Valentijn

    Valentijn Activity Level: 3

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    Most variations in the nucleotides of a gene (A, C, G, or T) have no impact on the enzyme which is created by that gene. But sometimes having a "G" instead of a "C", for example, will result in the enzyme getting a different amino acid inserted in it.

    Hence at "MTHFR C677T", there is a missense mutation created when someone has the "T" allele instead of the "C" allele near position 677 in the MTHFR gene. Having the "T" instead of the "C" there results in the MTHFR enzyme having an Alanine amino acid replaced with a Valine amino acid in a certain location.

    So basically a missense mutation is just an allele which causes a change in the enzyme created by the gene. If the "mutant" amino acid is very similar to the normal amino acid, there might be little or no change in the enzyme. But if the new amino acid is different, it might be more or less susceptible to heat, and either break down more quickly or more slowly.

    Sometimes this isn't much of a problem, but it can also result in something breaking down so quickly that you end up with a severe deficiency in it, or not breaking down quickly enough and accumulating in the body and causing issues. Additionally, some missense mutations can mess up the bits of an enzyme which are directly attaching to other proteins, meaning the enzyme is completely non-functional.

    There are also "nonsense" mutations, caused by the mutation in a gene resulting in the enzyme it creates being prematurely terminated. This is usually a pretty bad situation, but not always. Some genes where this happens frequently are redundant, so another gene is producing the same enzyme anyhow. And some genes can simply be completely absent, such as GSTT1 is in many people, also resulting in no enzyme being created.
     
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  15. Gingergrrl

    Gingergrrl Community Support Volunteer

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    @Valentijn Wow, I didn't understand half of that but it is very impressive! How is the information applied in real life- meaning if I found out I had missense mutations, is there something that I would do differently?

    The basic info that I have learned from doing 23andMe is that I have the MTHFR mutations and will be re-starting B-12 and Folate as soon as I get the go-ahead. I am still not sure what to do (on a practical level) re: the other ones and need to read a lot more or find a specialist who can help me.

    Thanks again for all your help with this!
     
  16. Valentijn

    Valentijn Activity Level: 3

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    In some cases, such as with the MTHFR missense mutations, it means that you have trouble creating or recycling a vitamin. For MTHFR that can mean that eating extra veggies or supplementing with methylfolate (not folic acid) can completely compensate for any problems which be caused by your MTHFR being rather slow. So supplementation or drugs can help with certain problems, and avoiding certain foods or supplements or drugs can help with other problems.

    So it depends on which gene it is, and what effect it's having. But usually something can be done to mitigate its effects, if necessary.
     
  17. caledonia

    caledonia

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    I looked back in my journal notes to make sure I got this all straight. I was taking 2 capsules, three times a day - breakfast, lunch and supper. It was Thorne Taurine, which is 500mg per capsule. So that would be 3000mg of taurine per day. The bottle says take 1 capsule, to two to three times a day, so this is at least double what the bottle suggests.
     
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  18. Gingergrrl

    Gingergrrl Community Support Volunteer

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    @caledonia Thank you for the dosage info re: Taurine, I appreciate it.
     

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