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Scared, a lot of mutations.

Discussion in 'Genetic Testing and SNPs' started by roboto_s, Jun 14, 2014.

  1. roboto_s


    Belgrade, Serbia
    I have mthfr support website to analyze my 23andme data.

    Now I am really scared when I see all those mutations, especially those in the METHYLATION and THYROID sections.

    I have attached my results if anyone can give some more insights on how to interpret this data.

    Could anyone help me with potential therapy that i need to take?

    Attached Files:

    Last edited: Jun 14, 2014
  2. ahmo

    ahmo Senior Member

    Northcoast NSW, Australia
    @roboto_s I can see why you'd be scared. This is a scary-looking report.:nervous: However, I don't think that means there's a scary profile. It's in a format that's different from what we usually see here, in my experience. And it's included a LOT of defects. For me, I've uploaded my basic 23andme results into Promethease, which gives a huge amount of info. I've scanned through some of it, and can search for particulars, but the rest of it I've not attended to.

    I don't know much about the Detox panel, others have more info about these. I'm going to try to make a list of your primary Methylation Pathway snps, so it's easier to get started.

    For starters, (I've started at the bottom, moving up) you're gluten intolerant, and there's something w/ your thyroid. Gluten contributes to thyroid problems, as well as being the first place to start in correcting methylation issues. Eliminating gluten comes first, IMO.

    I don't know anything about TCN2, TYMS, PEMT, homozygous, so potentially significant.

    You've got homozygous MTHFR A1298C, but it's not compounded by MTHFR C677, which would make methylation issues worse. I don't know anything about the cluster of MTHFRG 1793A, which are also homozygous.

    MAO A++ (well, it's coded red, w/ a single +, which is different from how we tend to see it) Suggests tendency toward histamine intolerance. Also, possibly poor cycling of serotonin, leading to high/low mood swings, aggressive behavior, increased anxiety, low frustration threshold. (Like me)

    I don't know about the GADs.

    There's a single of the COMT snp, but it's homozygous. Further tendency toward mood swings, dopamine fluctuation.

    CBS: I don't know about the variant you have, CBS A 13637. The sort that I and lot's of others around here have, CBS C699, signifies difficulty managing sulfur, which can create excess ammonia, leading to brain, neurological type responses. Also homocysteine issues.

    You have something relating to mold, which w/ the MTHFR methylation deficiency, could make you easily susceptible to over-sensitivity to molds.

    Your Methylation Pathway doesn't look so scary to me.:)

    Have you had thyroid issues? Here's a good thyroid resource. Standard allopathic docs tend to treat all thyroid pretty simplistically. You'll get a different picture here:

    Low dose lithium orotate can help w/ mood swings, but I don't know that that's where you should start, unless that's a significant issue in your life.

    You might find more info on the Detox snps at geneticgenie.org.
    And for MTHFR, including possibly some clarification on your variants, see mthfr.net.

    Also, there are a number of people well-versed in the defects on the Glutathione forum. There might be here, too, I haven't spent any time on this forum.
    Last edited: Jun 14, 2014
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  3. sueami

    sueami Senior Member

    Front Range Colorado
    Okay, I'm relatively new here, but your snps do not look that scary to me.

    Amy Yasko has first priority mutations she says you have to address before you can even start methylation, and you don't have much at all in those -- ACAT, SHMT and CBS. The one that you do have is that +/- CBS 699. Your other CBS snp is clean.

    So you're already ahead of the game there in some sense. To be completely clean on one of the two MTHFRs is great too.

    I'm not knowledgeable enough to give you specific advice but I think your results are better than you realize. Don't forget that many of the snps included in that long report are little understood and may not cause significant problems.

    No need to rush into a protocol, let the advice that you get on this thread sink in, read through the great links in Caledonia's signature, read a little bit at heartfixer and Yasko's site (and re-read those pages after a few weeks. I understand everything a little bit more as I continue to absorb new information.)
    roboto_s, ahmo and merylg like this.
  4. ahmo

    ahmo Senior Member

    Northcoast NSW, Australia
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  5. Sea

    Sea Senior Member

    NSW Australia
    Firstly, they are not mutations. They are variations. Many of them have a frequency which is nearly as common as the alternative.

    Some of them raise your risk of various outcomes by varying amounts and some of them have no research that says they do anything at all. Only a very few are anything important. Only by researching each one can you discover what effect, if anything, each snp could possibly have.

    dbSnp is a good place to start

    eg just picking one from your list at random: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=4244593
    the minor allele has a prevalence of 39.9%

    It is a mistake to assume that because a particular snp on a gene is harmful that any snp on that gene will be harmful.

    You cannot deduce gluten intolerance from this list. The predisposition to Celiac requires a haplotype which involves having particular alleles for at least 3 snps. If you search snpedia it will tell you what those are.

    Around 40% of the general population carry one of the haplotypes that can make you susceptible to Celiac, but even then only 1% of the population has Celiac. The genes are only a beginning.

    Of course there are far more people with gluten intolerance than with Celiac and it is always worth trialling a gluten free diet to see if it has any benefit for you, but you can't base it on that snp. I don't think any genetic correlations have been discovered yet for gluten intolerance apart from Celiac.
    alex3619, roboto_s and Valentijn like this.
  6. ahmo

    ahmo Senior Member

    Northcoast NSW, Australia
    @Sea Thanks. I just took that HLA at face value.
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  7. roboto_s


    Belgrade, Serbia
    Thanks for all of your answers guys. It means a lot to me.

    I woke up this morning and saw a lot of responses. This is beautiful community. I am new in all of this, but I have huge motivation to research Methylation in depth.

    I assume that females have two values for this one, and males have one value.

    On 23andme information page MAOA is presented in the following way:

    gene: MAOA | position: 43591036 | snp: rs6323 | Versions: G or T | My Version: T | Orientation: +

    T on rs6323 => higher MAOA activity
    G on rs6323 => lower MAOA activity


    Also there is is a vast number of SNP's on this MAOA => https://www.23andme.com/you/explorer/gene/?gene_name=MAOA.
    This leads me to the conclusion that all SNP's on this gene should be analyzed not just rs6323.

    I have found this interesting post written by @Valentijn => http://forums.phoenixrising.me/index.php?threads/help-interpreting-my-results.25591/#post-393802

    It says that A1298C is not too hamful, but MTR A2756G combined with MTRR A66G could be. And I am heterozygous for those two.

    MTHFR A1298C => Mine is: GG rs1801131
    MTR A2756G - rs1805087 => Mine is: AG => http://mtra2756g.com/
    MTRR A66G rs1801394 => Mine is AG => http://www.mtrra66g.com/

    It suggested to take methylB12 or hydroxoB12 for this defect.

    :) After doing little research, I would say not too scary.

    I am going yearly on physical examination (blood tests, ecg and ultrasound of abdomen) because company pays for that one.
    Known medical issues that I have is:
    1) faster heart rate
    2) and I have been diagnosed for the "Prolapsus Valvulae Mitralis"

    Maybe faster heart rate could be connected to thyroid problems, i will do hormone tests for thyroid. I am often tired and in a need for a sleep.

    Is there any treatment for malformed CBS699?

    It seems that I need to perform a lot of research before start to consume any supplements. Thanks for pointing me to @caledonia's signature. There are plenty of resources there.

    Could you please provide information about which few variations are important to look for?

    All of this looks to me as a source code of some computer program, and that all of those SNPs are all interacting with each other.

    At this point it seems that i need to add more apples to my nutrition and drink lemonde as well to detox alluminum from body.
    Last edited: Jun 15, 2014
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  8. jen1177


    At this point it seems that i need to add more apples to my nutrition and drink lemonde as well to detox alluminum from body.[/quote]

    Thank you for writing this one little line in your post. I wondered what the connection between apples and detoxing was...searched on the web....discovered the pectin chelation detox phenomenon. Now I think I know why my CFS has been improving...at least in part...I've been eating cabbage (home made sauerkraut),apples, pears, and carrots EVERY day for over a year and it's the first year I've ended better off than when I started. I had NO IDEA that I was chelating and detoxing like crazy! :)
    I love learning stuff! Thank you!
    Good luck with your detoxing and treatments.

    P.S. I think ALL genetic variations had to have originated as mutations, right? So, not sure why people are making a distinction. :) There's no shame in being a mutant. :)
    Last edited: Jun 20, 2014
  9. Sea

    Sea Senior Member

    NSW Australia
    Technically yes, but researchers tend to reserve the term mutation for snps they have determined to be damaging and fairly rare or infrequent, rather than the snps that are insignificant and often as common as the original. In fact in some cases they are not even sure which variation is the original and which is the change
  10. Critterina

    Critterina Senior Member

    Arizona, USA
    @jen1177 and @Sea ,

    I just want to point out that we have a special smiley face for mutants: :alien:
    LOL, just playing with you! ;) Really, it's an alien, not a mutant.

    sueami and Valentijn like this.

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