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Needing help w. 23 & Me analysis

Discussion in 'Genetic Testing and SNPs' started by Tiger Lily 813, Apr 22, 2014.

  1. Tiger Lily 813

    Tiger Lily 813 Senior Member

    Hi guys, I'm sorry but even with the write up provided from Genetic Genie I am still a bit lost on interpretation. My problems are adrenal fatigue, lyme & bartonella, possible mold exposure, CFIDS.
    Anything you could help me make sense of would be so very appreciated. genetic genie.JPG
    victoriana likes this.
  2. Tiger Lily 813

    Tiger Lily 813 Senior Member

    Here is my write up, but again I think I need the dummies guide to the write up...
    (Chart above and explanation taken from Genetic Genie.org)
    MTHFR Mutations
    First we'll look at a few of your MTHFR mutations. According to research, these mutations are important and can
    be implicated in various disease states.
    You have 1 heterozygous (yellow) mutation(s). These are generally not as bad as red homozygous mutation, but
    they may still worth paying attention to. They include:
    MTHFR A1298C
    Now let's move on to discuss what these MTHFR mutation(s) mean.
    MTHFR A1298C
    MTHFR A1298C is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Unlike MTHFR C677T,
    the A1298C mutation does not lead to elevated homocysteine levels. This reaction helps generate BH4. BH4 is
    important for the detoxification of ammonia. The gene is compromised about 70% in MTHFR A1298C (+/+)
    individuals, and about 30% in people with a heterozygous (+/-) mutation.
    BH4 acts as a rate limiting factor for the production of neurotransmitters and catecholamines including serotonin,
    melatonin, dopamine, norepinephrine, and epinephrine. A MTHFR A1298C + status may cause a decrease in any
    of these neurotransmitters or catecholamines. BH4 is also a cofactor in the production of nitric oxide. A
    dysfunctional BH4 enzyme may lead to mental/emotional and/or physical symptoms. Mercury, lead, and
    aluminum may act as a drain on BH4.
    Methylation Profile generated by GeneticGenie.org Page: 3 of 6
    All of Your Other Mutations
    Now we are going to look at all of your mutations. You do not necessarily need to worry about all of these
    mutations, but certain mutations may cause problems in certain individuals. Genetic Genie does not look at the
    expression of your genes, it only looks at specific gene SNPs. Keep in mind that even if you are homozygous or
    heterozygous for a certain mutations, it doesn't necessarily mean there is a problem with the functioning of that
    gene. You have 4 homozygous (+/+) mutations and 5 heterozygous (+/-) mutations.
    Here are your homozygous mutations as indicated in your SNP gene table above (not including MTHFR):
    MAO-A R297R
    MTRR A66G
    Here are your heterozygous mutations as indicated in your SNP gene table above (not including MTHFR):
    VDR Bsm
    VDR Taq
    MTRR A664A
    CBS C699T
    CBS A360A
    CBS Mutations
    CBS (cystathionine beta synthase) catalyzes the first step of the transsulfuration pathway, from homocysteine to
    cystathionine. CBS defects are actually an upregulation of the CBS enzyme. This means the enzyme works too
    fast. In these patients, it's common to see low levels of cystathionine and homocysteine since there is a rapid
    conversion to taurine. This leads to high levels of taurine and ammonia. The CBS upregulation has been clinically
    observed to result in sulfur intolerance in some patients. It has also been observed that BH4 can also become
    depleted with a CBS upregulation. BH4 helps regulate neurotransmitters and mood. Other mutations, such as
    MTHFR A1298C, Chronic bacterial infections, and aluminum can also lead to low BH4 levels. Lack of BH4 can
    lead to mast cell degranulation and possibly mast cell activation disorder (MCAD).
    Note: While some physicians think the CBS mutation is one of the most important mutations to address, there is
    very little medical research to support these claims and some doctors in the field disagree. In normal populations,
    studies have shown CBS upregulations to be protective against high homocysteine. However, CBS upregulations
    have shown to be harmful in Down Syndrome. Medical research has not determined if CBS upregulations are
    harmful in those with syndromes or disorders leading to impaired methylation.
    MTR/MTRR Mutations
    MTRR (Methionine synthase reductase) helps recycle B12. The combination of MTR and MTRR mutations can
    deplete methyl B12. MTR A2756G, MTRR A66G, MTRR H595Y, MTRR K350A, MTRR R415T, MTRR S257T, and
    MTRR A664A all work together to convert homocysteine to methionine.
    MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) provides instructions for making the enzyme
    methionine synthase. Methionine synthase helps convert the amino acid homocysteine to methionine. To work
    properly, methionine synthase requires B12 (specifically in the form of methylcobalamin). An MTR A2756G
    mutation increases the activity of the MTR gene causing a greater need for B12 since the enzyme causes B12 to
    deplete since it is using it up at a faster rate. Mutations in MTR have been identified as the underlying cause of
    methylcobalamin deficiency. Megaloblastic anemia can occur as a consequence of reduce methionine synthase
    A homozygous mutation of MTR A2756G is not very common (<1% of CEU population). Some studies have
    demonstrated that people with a combination of MTHFR C677T and MTR A2756G have persistently high
    homocysteine levels unless they are treated with both B12 and folate.
  3. Tiger Lily 813

    Tiger Lily 813 Senior Member

    @caledonia it's been mentioned that you're rather knowledgeable with this, if you could give me any quick notes when you have the chance I'd really appreciate it ; )
  4. caledonia


    Cincinnati, OH, USA
    Hi Tiger Lily,

    You have one First Priority mutation, which is CBS. (SHMT is unknown as 23andme doesn't test for that anymore).
    First Priority means to take care of this gene first before starting on the others (MTHFR and the rest), otherwise you may run into problems.

    You don't appear to have gut issues, but if you did, you may want to treat for SHMT while doing the 4R Gut Rebuilding program, just to cover your bases. SHMT is one of the "leaky gut genes".

    You have two CBS mutations, both the major one CBS C699T and CBS A360A. You have also have several BHMT mutations which can add to and even cause a CBS problem even without CBS mutations. CBS only has to be addressed if it's expressed. You have many mutations, so it would be a good idea to check and see if CBS is expressed. You can tell if ammonia and urine sulfate are elevated. Also if you have problems with sulfur foods or supps, or have problems tolerating methyl supplements. The "poor man's test" is to use urine sulfate strips. If the values are consistently elevated over several days, that's a positive that it's expressed.

    Then you would need to do the CBS protocol to lower ammonia and sulfate and get that pathway balanced. This can take up to three months, so patience is in order.

    The Heartfixer page has excellent info on how to treat CBS. I used that exact protocol except I used the Free Thiol diet instead of the low sulfur diet (much easier), and I didn't do any Yasko RNAs.

    Next you have MTHFR A1298C, which affects methylfolate. This is the minor one, but as genetic genie says, it can cause mental health issues. You would take methylfolate for that.

    MTRR is B12 recycling. You look at the COMT/VDR taq combo to see what type of B12 would work best for you. Yasko suggests all three types, methylcobalamin, hydroxycobalamin and adenosylcobalamin, with less methylcobalamin. So you're not very sensitive to mood swings, so that's good.

    BHMT is in the secondary methylation pathway. Yasko suggests sunflower lecithin which will convert to TMG for that.

    VDR Bsm is the Vitamin D Receptor. Get your vitamin D tested and supplement for that if it's low.

    I have links to the various things I mentioned in my signature. Also be sure to read Start Low and Go Slow and Roadblocks to Successful Methylation before getting started on supplements.
    Tiger Lily 813 likes this.
  5. Tiger Lily 813

    Tiger Lily 813 Senior Member

    Wowweee!!! Thank you very much! My first step is to get out of a potentially moldy apt, then, all of this : ) So grateful!!

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