Professor & patients' paper on the solvable biological challenge of ME/CFS: reader-friendly version
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Can someone help me with SNPs too?

Discussion in 'Genetic Testing and SNPs' started by wordweaver27, Sep 11, 2013.

  1. caledonia


    Cincinnati, OH, USA
    Blog Talk Radio. They started in January 2013. I was impressed enough by the content, I broke down and bought an iPod so I could download the shows and lay in bed and listen to them.

    So you don't feel obligated to listen to all of them and feel overwhelmed, the best ones so far one the one on the the SNPs that I linked to, and one from Ben Lynch on how vitamins are manufactured. I'm currently listening to the one on Down's Syndrome and MTHFR which is pretty interesting.

    There are other topics such as thyroid and hormones, fluoroquinolone toxicity and so forth that may interest other people.
    roxie60 likes this.
  2. caledonia


    Cincinnati, OH, USA
    Here's my analysis. I erased the ones I'm not as familiar with or which are not significant. I don't like the MTHFRsupport SNP analysis because, for the most part, they don't have treatments for all the SNPs they've come up with. They might become more significant later if they can come up with treatments.

    And as you're saying, so many SNPs are confusing. You can make quite a lot of progress on just methylation SNPs.

    So that being said, here goes:
    You have two First Priority mutations which you need to take care of before you get into taking methyl supplements. For SHMT take folinic acid. SHMT is also one of the "leaky gut genes". You should check for leaky gut and if positive, treat with a 4R gut rebuilding program before proceeding. One risk factor is antibiotics. Symptoms are things like multiple food intolerances. You can do an intestinal permeability test, or a stool test to see what gut bugs and imbalances you have and treat for those.

    The next one is CBS. The A360A is the minor one, which generally doesn't seem to need treatment, but you're +/+ and you have all the BHMTs which add to CBS. If ammonia and sulfur are high on testing, or you react to sulfur foods, or you start having a stress/anxiety reaction when you start methyl supps, you'll need to treat CBS. Heartfixer is a good reference for what to do.

    Then the Second Priority Mutations - for the BHMTs, take TMG. BHMT is the secondary backup methylation pathway.

    You have MTR and all the MTRRs. This is a double whammy on B12. MTR blocks B12 as it comes in from the diet. MTRR blocks recycling of B12 after it's been through the cycle. So you'll definitely need B12 supplementation. Yasko suggests checking lithium levels and supplementing if low before doing B12.

    The COMT/VDR combo affects what kind of B12 you can tolerate. Yasko has a nice chart in her Simplified Roadmap. For your combination, Yasko suggests hydroxycobalamin and adenosylcobalamin, to avoid mood swings.

    For MTHFR A1298C, some methylfolate.

    PON1 detoxifies pesticides and nerve gas, so avoid those, and eat your fruits and veggies.

    Leave MAO A until last. Maybe some 5htp for that. But that's contraindicated if you're on an SSRI or SNRI.

    See the links in my signature for more info.
  3. jepps

    jepps Senior Member

    Concerning the TCN2 C766G gene, If I have I mutation: I know, that this gene transports B12 into the cells. But what can I do, to compensate the impacted gene?

    Can I Support the gene in taking higher amounts of B12?

    As Lithium transports B12 in the cells, ist this a possibility to force B12-levels?

    Does anybody know something? Regards, jepps
    Last edited: Mar 31, 2014
  4. frenchmoxie


    Good question, I know this thread is a little old but I'm still interested in the topic. I posted a few years ago, stating that my MMA levels were fine. Now, it seems that I'm very B12 deficient. I'm homozygous, +/+ for TCN2 as well, and a few other genes related to B12 transport/metabolization / utilization including MTRR and MTR
    This all helps to explain why I'm constantly exhausted and spend most of my days in bed
    :( Just found it about FUT2, and, of course go figure, I'm heterozygous for all 3 variants reported in the Sterling Hill app.

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