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Need help with 23andme results

Discussion in 'Genetic Testing and SNPs' started by Duhhbeach, Nov 1, 2013.

  1. Duhhbeach

    Duhhbeach

    Messages:
    4
    Likes:
    1
    Lala
    Hi everyone, I new to this forum.
    If anyone can help or offer me some insight I would be grateful.
    I was recently diagnosed with Hashimoto's thyroiditis (TPO ab at 1022)...and put on Levoxothyrine 50mcg, advised to be gluten and dairy free and supplementing with Vitamin D3 with K2 5000iu, Pregnenalone, Vitamin C, Zinc, selenium taken with Vitamin E...I have installed shower filter changed deodorant to aluminum free and fluoride free toothpaste, and trying to get all the chemicals out of my house any way I can..
    I eat clean and I am also currently trying to clear my methylation pathway so I can start to take methylated B12 etc. and I am on a low sulphur/thiol diet...I have ordered Yucca, activated charcoal and one other thing to help with detoxing ammonia and I think its obvious there is a problem because me urine reeks of it all the time!

    I have an appointment with my Gastroenterologist next week but I have no clue if he is versed in MTHFR issues...I sent my 23andme results ahead of my visit and Im hoping he has a clue...I have been researching a lot online and I have learned a lot!
    I am posting results below via my livewello report.

    Thanks in advsnce for your input!

    ALLERGY
    Gene rsID Genotype Phenotype
    HLA rs2155219 GG +/+

    CLOTTING FACTORS
    Gene rsID Genotype Phenotype
    CETP rs1800775 AC +/-
    F11 rs2036914 CT +/-
    F11 rs2289252 CT +/-
    GP6 rs1613662 AG +/-
    ITGB3 rs5918 CC +/+
    NR1I2 rs1523127 CC +/+

    DETOX
    Gene rsID Genotype Phenotype
    CTH rs1021737 GG -/-
    CYP1B1 R48G rs10012 GG +/+
    CYP2A6*2 A1799T rs1801272 AA +/+
    CYP2C19 rs12248560 CT +/-
    CYP2C9*2 C430T rs1799853 CT +/-
    -/-
    CYP2D6 rs1135840 CG +/-
    CYP2D6 T2850C rs16947 AG +/-
    CYP2E1*1B G9896C rs2070676 CG +/-
    G
    CYP3A4 rs12721627 GG +/+
    CYP3A4 rs4986910 AG +/-
    CYP3A4*2 S222P rs55785340 AA -/-
    GPX3 rs8177412 TT -/-
    GSTM1 rs1056806 CC -/-
    GSTM1 rs2239892 AA -/-
    GSTM1 rs4147565 GG -/-
    GSTM1 rs4147567 AA -/-
    GSTP1 rs1138272 CC -/-
    GSTP1 rs1695 AA -/-
    NAT1 rs4986782 GG -/-
    NAT2 rs1208 AG +/-
    NAT2 rs1799930 GG -/-
    NAT2 rs1799931 GG -/-
    NAT2 rs1801279 GG -/-
    NAT2 rs1801280 CT +/-

    GLUTEN INTOLERANCE
    Gene rsID Genotype Phenotype
    HLA rs2858331 AG +/-
    HLA-DQA1 rs2187668 CC -/-

    IGA
    Gene rsID Genotype Phenotype
    CFH rs6677604 GG -/-
    HLA rs9271366 AG +/-
    HLA-DPB2 / COL11A2P rs1883414 GG -/-
    HLA-DQA2 rs9275224 AG +/-
    HORMAD2 rs2412971 AA +/+
    IFIH1 rs1990760 TT +/+
    IGF1R rs2229765 GG -/-
    IRF5 rs4728142 AA +/+
    MTC03P1 rs2856717 AG +/-
    MTC03P1 rs9275596 CT +/-
    PSMB8 rs9357155 GG -/-
    TRAF1 rs3761847 AA -/-

    IGE
    C3 rs10402876 CG +/-
    C3 rs366510 GT +/-
    CD14 rs2569191 CT +/-
    DARC rs2814778 TT -/-
    FCER1A rs2251746 CC +/+
    FCER1A rs2427824 CC -/-
    FCER1A rs2427827 CC -/-
    FCER1A rs2427837 AA +/+
    FCER1A rs2494262 AA +/+
    FCER1A / OR10J2P rs10489854 CC -/-
    IL13 rs1295685 AA +/+
    IL13 rs1800925 CT +/-
    IL5 rs2069812 GG +/+
    RAD50 rs17772565 CC -/-
    RAD50 rs17772583 AA -/-
    RAD50 rs2040704 AG +/-
    RAD50 rs2240032 CT +/-
    RAD50 rs6884762 CC -/-
    RAG1 rs3740955 AA +/+
    SOCS1 rs33977706 AC +/-

    IGG
    FCGR2A rs1801274 AG +/-
    Intergenetic rs2013111 CC +/+
    TBC1D27 rs3751987 AG +/-

    METHYLATION
    ACE Del16 rs4343 AG +/-
    AGT M235T/C4072T rs699 AA +/+
    AA -/-
    TT -/-
    ATG9B (NOS3 G10T) rs7830 GT +/-
    BHMT R239Q rs3733890 GG -/-
    BHMT-02 rs567754 CC -/-
    BHMT-04 rs617219 AA -/-
    BHMT-08 rs651852 CC -/-
    C18orf56 (TYMS) rs502396 TT +/+
    CBS A13637G rs2851391 CT +/-
    CBS A360A rs1801181 AG +/-
    CBS C19150T rs4920037 GG -/-
    CBS C699T rs234706 GG -/-
    CBS N212N rs2298758 GG -/-
    CLCN6 rs13306560 CT +/-
    CLCN6 rs13306561 AG +/-
    CLCN6 rs3737964 CC -/-
    DAO rs2070586 AG +/-
    DAO rs2111902 GT +/-
    DAO rs3741775 AC +/-
    DHFR rs1643649 CT +/-
    FOLR1 rs2071010 GG -/-
    FOLR2 rs651933 GG +/+
    FOLR3 rs7925545 AA -/-
    FOLR3 rs7926875 CC -/-
    FUT2 rs492602 AG +/-
    FUT2 rs601338 AG +/-
    FUT2 rs602662 AA +/+
    G6PD rs1050828 CC -/-
    G6PD rs1050829 TT -/-
    GAD1 rs10432420 AG +/-
    GAD1 rs12185692 CC -/-
    GAD1 rs2058725 TT -/-
    GAD1 rs2241165 TT -/-
    GAD1 rs3749034 GG -/-
    GAD1 rs3791850 GG -/-
    GAD1 rs3791851 CC +/+
    GAD1 rs3791878 TT +/+
    GAD1 rs3828275 CC -/-
    GAD1 rs701492 TT +/+
    GAD1 rs769395 GG +/+
    GAD1 rs769407 CC +/+
    GAD2 rs1805398 GG -/-
    GAMT rs17851582 GG -/-
    GAMT rs55776826 CC -/-
    GIF rs558660 GG -/-
    MAO A R297R rs6323 TT -/-
    MAOB rs1799836 CT +/-
    MIR4761 (COMT -61 P199P) rs769224 GG -/-
    MIR4761 (COMT H62H) rs4633 CC -/-
    MIR4761 (COMT V158M) rs4680 GG -/-
    MIR4761 (COMT) rs6269 GG +/+
    MTHFD1 C105T rs1076991 TT +/+
    MTHFD1 G1958A rs2236225 AA +/+
    MTHFD1L rs11754661 AG +/-
    MTHFD1L rs17349743 CT +/-
    MTHFD1L rs6922269 AG +/-
    MTHFD1L rs803422 AG +/-
    MTHFR rs12121543 CC -/-
    MTHFR rs1476413 CC -/-
    MTHFR rs17037390 AG +/-
    MTHFR rs17037396 CC -/-
    MTHFR rs4846049 GT +/-
    MTHFR (LOC100506310) rs4846048 AG +/-
    MTHFR 03 P39P rs2066470 GG -/-
    MTHFR A1298C rs1801131 GT +/-
    MTHFR A1572G rs17367504 AG +/-
    MTHFR C677T rs1801133 GG -/-
    MTHFR G1793A (R594Q) rs2274976 CC -/-
    MTHFS rs6495446 CT +/-
    MTR A2756G rs1805087 AG +/-
    MTRR A66G rs1801394 AG +/-
    MTRR H595Y rs10380 CC -/-
    MTRR K350A rs162036 AA -/-
    MTRR R415T rs2287780 CC -/-
    MTRR-11 A664A rs1802059 GG -/-
    NOS1 rs3782206 CC -/-
    NOS2 rs2248814 AG +/-
    NOS2 rs2274894 GT +/-
    NOS2 rs2297518 GG -/-
    NOS3 rs1800779 AG +/-
    NOS3 rs1800783 AT +/-
    NOS3 rs3918188 AC +/-
    NOS3 T786C rs2070744 CT +/-
    PEMT rs4244593 TT +/+
    PEMT rs4646406 TT +/+
    SHMT1 C1420T rs1979277 GG -/-
    SLC19A1 rs1888530 CT +/-
    SLC19A1 rs3788200 AG +/-
    SOD2 rs2758331 CC -/-
    SOD2 rs4880 AA -/-
    SOD3 rs2855262 CT +/-
    TCN1 rs526934 AA -/-
    TCN2 C766G rs1801198 CG +/-
    VDR Bsm rs1544410 CC -/-

    MITOCHONDRIAL FUNCTION
    ATP5C1 rs1244414 CC -/-
    ATP5C1 rs1244422 CT +/-
    ATP5C1 rs12770829 CT +/-
    ATP5C1 rs2778475 AG +/-
    ATP5C1 rs4655 CT +/-
    ATP5G3 rs185584 AA -/-
    ATP5G3 rs36089250 TT -/-
    CCL2 rs1024611 AA -/-
    COX5A rs8042694 AA -/-
    COX6C rs1135382 AG +/-
    COX6C rs12544943 AG +/-
    COX6C rs4510829 AG +/-
    COX6C rs4626565 CT +/-
    COX6C rs7828241 AC +/-
    COX6C rs7844439 AC +/-
    NDUFS3 rs4147730 GG -/-
    NDUFS3 rs4147731 GG -/-
    NDUFS3 (KBTBD4) rs2233354 TT -/-
    NDUFS7 rs1142530 CC -/-
    NDUFS7 rs11666067 CC -/-
    NDUFS7 rs2074895 CC -/-
    NDUFS7 rs2332496 GG -/-
    NDUFS7 rs7254913 GG +/+
    NDUFS7 rs7258846 GG -/-
    NDUFS7 rs809359 AG +/-
    NDUFS8 rs1051806 CC -/-
    NDUFS8 rs1104739 AC +/-
    NDUFS8 rs1122731 AG +/-
    NDUFS8 rs2075626 CT +/-
    NDUFS8 rs3115546 TT -/-
    NDUFS8 rs4147776 AA -/-
    NDUFS8 rs999571 AG +/-
    SLC19A1 rs1051266 CT +/-
    UQCRC2 rs11648723 GG -/-
    UQCRC2 rs4850 GG -/-
    UQCRC2 rs6497563 TT -/-

    OTHER IMMUNE FACTORS
    Gene
    4q27 Region rs6822844 GG -/-
    ADD1 G460W rs4961 GG -/-
    APOE rs429358 TT -/-
    ATG16L1 rs10210302 CC -/-
    HLA-DRB1 rs660895 AA -/-
    IL13 rs20541 AA +/+
    IL4R rs1801275 AG +/-
    MEFV rs11466023 GG -/-
    MEFV rs3743930 CC +/+
    STAT4 rs10181656 CG +/-
    TNF rs1800629 GG -/-
    TNF rs361525 GG -/-
    TYR rs28940879 GG -/-
    SNPs here are related to None
    SULFOTRANSFERASE
    SULT2A1 rs296365 GG +/+

    THYROID
    FOXE1 rs1867277 AG +/-
     
  2. JAH

    JAH Senior Member

    Messages:
    284
    Likes:
    166
    San Jose
    I am about to do the 23 and me test and have been referred to genetic genie, which will analyze for methylation and detox pathways, http://geneticgenie.org/

    Check them out, genetic genie mentioned on some other posts if you want more info...JAH
     
  3. Duhhbeach

    Duhhbeach

    Messages:
    4
    Likes:
    1
    Lala
    Hi Jah,
    Thanks, I already used genetic genie. The results I posted are from Livewello and are much more extensive.
    I am looking for additional information and input with regard to my SNP's.
     
  4. caledonia

    caledonia

    Messages:
    3,039
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    1,712
    Cincinnati, OH, USA
    I prefer looking at the output from Genetic Genie i.e. the Yasko methylation SNPs and possibly the Detox SNPs. The reason I don't like the more extensive reports is they apply more to general health issues than ME, and most of them have no treatment (except for something like Clotting Factors). Plus just getting a handle on the methylation SNPs is hard enough, and treating just those methylation SNPs will bring a lot of improvement.

    Genetic Genie has a nice analysis based on Yasko and other sources for the methylation SNPs. It's about the same as what I would tell you.

    I've never heard of anyone with only CBS A360A +/-, no CBS C699T and no BHMTs having their CBS expressed (needing to do a CBS protocol). How did you determine that your CBS is expressed, other than the ammonia smell in your urine?

    You do have MTHFR A1298C +/- which could use some folate support, and problems with B12 on both the MTR (B12 intake) and MTRR (B12 recycling). This is called the B12 Double Whammy, so B12 support is indicated there.
     
  5. Duhhbeach

    Duhhbeach

    Messages:
    4
    Likes:
    1
    Lala
    Hi Caledonia,
    Thank you for your reply.
    Here is the genetic Genie results which includes suggestion to the CBS mutation for A360A.



    Methylation and detox analysis from 23andMe re
    Methylation Analysis ResultsTop of Form

    Bottom of Form

    Gene & Variation
    rsID
    Alleles
    Result

    COMT V158M
    rs4680
    GG
    -/-
    COMT H62H
    rs4633
    CC
    -/-
    COMT P199P
    rs769224
    GG
    -/-
    VDR Bsm
    rs1544410
    CC
    -/-
    VDR Taq
    rs731236
    AA
    +/+
    MAO A R297R
    rs6323
    TT
    +/+
    ACAT1-02
    rs3741049
    GG
    -/-
    MTHFR C677T
    rs1801133
    GG
    -/-
    MTHFR 03 P39P
    rs2066470
    GG
    -/-
    MTHFR A1298C
    rs1801131
    GT
    +/-
    MTR A2756G
    rs1805087
    AG
    +/-
    MTRR A66G
    rs1801394
    AG
    +/-
    MTRR H595Y
    rs10380
    CC
    -/-
    MTRR K350A
    rs162036
    AA
    -/-
    MTRR R415T
    rs2287780
    CC
    -/-
    MTRR A664A
    rs1802059
    GG
    -/-
    BHMT-02
    rs567754
    CC
    -/-
    BHMT-04
    rs617219
    AA
    -/-
    BHMT-08
    rs651852
    CC
    -/-
    AHCY-01
    rs819147
    TT
    -/-
    AHCY-02
    rs819134
    AA
    -/-
    AHCY-19
    rs819171
    TT
    -/-
    CBS C699T
    rs234706
    GG
    -/-
    CBS A360A
    rs1801181
    AG
    +/-
    CBS N212N
    rs2298758
    GG
    -/-
    SHMT1 C1420T
    rs1979277
    GG
    -/-
    Before getting started: Understanding the basics
    We have two copies of most of the genes we are born with - one from our mother and one from our father. Genetic Genie uses the SNPs (Single Nucleotide Polymorphisms) generated from your unique DNA sequence to determine if one or both copies of your genes have a mutation at a specific location in a specific gene. If there are no mutations present, your result will be displayed as (-/-). If one gene is mutated, the result will read (+/-). If both copies have a mutation, the result is (+/+). Along with the (+/-) symbols, the colors on the table also denote the type of mutation for visual comprehension. The color red indicates a homozygous (+/+) mutation, the color yellow indicates a (+/-) heterozygous mutation and the color green (-/-) indicates that you don't carry the specific mutation.
    The terms heterozygous and homozygous are used by geneticists to denote whether one or both copies of a gene are mutated. Heterozygous mutations (+/-) may differ from homozygous mutations (+/+) in associated disease risk since a person with a heterozygous mutation will often still have one fully functioning copy of the gene. It is also important to understand that having a gene with a SNP mutation does not mean that the gene is defective or nonfunctioning, only that it is working with an altered efficiency. Sometimes this means that it is working at a decreased level, but it could also mean that it is functioning at a higher than normal efficiency, or that the gene is lacking regulatory mechanisms normally involved in its expression.
    Although mutations can occur at any time during our lifetime, it is most likely that we are born with these mutations and will have them throughout our life. These inherited mutations have been passed down to us from previous generations (our parents and grandparents) and may be passed to future generations (our children). This may provide an explanation as to why certain traits or diseases "run in the family".
    Although we cannot change our genetic code, we can change how our genes are expressed. Research has revealed that our gene expression is not determined solely by hereditary factors, but it is also influenced by our diet, nutritional status, toxic load and environmental influences or stressors. This phenomenon has been termed "epigenetics". Researchers in the growing field of epigenetics have demonstrated that certain genes can be over- or under-expressed with certain disease processes. Researchers in this field hope that by understanding of how these genes are regulated and what is influencing them, we may be able to change their expression. Using epigenetic concepts along with a good understanding of the methylation cycle, researchers have begun to make recommendations to optimize genetic expression and help to restore health.
    Disclaimer: The information on this website is for educational purposes only and should not be used a substitute for a consultation with a healthcare provider. You, the reader, are instructed to consult with a qualified healthcare provider prior to acting on any suggestions presented on this website. This information is not intended for the diagnosis, treatment or cure of disease.
    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 in the detoxification of ammonia. The gene is compromised about 70% in MTHFR A1298C (+/+) individuals, and about 30% in people with a heterozygous (+/-) mutations.
    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. It's also a cofactor in the production of nitric oxide. If your BH4 cycle is not working effectively, you may experience mental/emotional and/or physical symptoms. Mercury, lead, and aluminum may act as a drain on BH4.
    Adressing MTHFR A1298C
    L-methylfolate supplementation may be implicated. One should start with low doses of L-methylfolate, and in the case of adverse reaction time-released niacin and/or potassium may help.
    Metal detoxification (especially aluminum) can help address dysfunctions associated with MTHFR A1298C and BH4 deficiency, and can help many other biochemical abnormalities as well. Aluminum toxicity can hinder one's ability to fight infection, so addressing the gut and treating chronic bacterial infection may be important. Since the A1298C mutation can lead to excess ammonia, one can address these elevated levels with things like charcoal/magnesium flushes, Yucca Root, and L-Ornithine. Keeping ammonia low helps preserve BH4 levels.
    Low doses of BH4 may be helpful after one's methylation cycle is fully supported.
    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 2 homozygous (+/+) mutations and 3 heterozygous (+/-) mutations.
    Here are your homozygous mutations as indicated in your SNP gene table above (not including MTHFR):
    • VDR Taq
    • MAO-A R297R
    Here are your heterozygous mutations as indicated in your SNP gene table above (not including MTHFR):
    • MTR A2756G
    • MTRR A66G
    • CBS A360A
    CBS Mutations
    CBS (cystathionine beta synthase) catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine. Dr. Yasko considers addressing CBS mutations as first priority aside from addressing the gut. CBS defects are actually upregulations. 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 NOS mutation can exacerbate ammonia issues. Furthermore, addressing CBS can help lower excessive levels of taurine and help detoxify ammonia. Dr. Yasko recommends that one supports their CBS enzyme for at least 6 weeks before starting methylation supplements. When one tries to take nutrients to support their methylation cycle before addressing the CBS upregulation, all the nutrients basically lead to nowhere. Instead of generating glutathione, the supplements may deplete the rest of the cycle.
    Addressing the CBS Mutation
    Before one starts adding supplements, it may be a good idea to get a baseline UAA from a doctor. This will determine one's Taurine levels. After about 4-6 weeks of following the CBS protocol (outlined in the book Autism: Pathways to Recovery), one should retest their UAA. Once one's UAA is at 50% or below, one can add the methylation supplements. It's important to regularly use UAA testing as taurine should remain at 50% or less. If taurine climbs one may need to address ammonia. Yucca Root and Charcoal/Magnesium flushes can help address high ammonia levels. High doses of L-Ornithine may be effective as well according to medical studies.
    The CBS mutation not only leads to excess taurine, but can also lead to excess sulfur groups. For this reason, it may be a good idea to limit sulfur intake. Excess sulfur intake can trigger a stress response or chronic stress. Sulfur is normally bound to amino acids, but the CBS upregulation can instead release the sulfur groups to sulfites in the body. There are many things one may need to avoid with a CBS upregulation. Some of the items include garlic, broccoli, eggs, onions, legumes, meat, Epsom salt baths, alpha lipoic acid, glutathione, chelating agents such as DMPS, NAC, Milk Thistle, various other supplements, and much more. Please look to other sources for foods and supplements that are high in sulfur.
    Supplementing with molybdenum may help as excess sulfites deplete it. Manganese is also important in ammonia detoxification. A Low protein diet can help as the body will have less ammonia to detoxify. It's important to measure molybdenum and manganese with a minerals test before supplementing.
    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). While difficult to obtain, BH4 supplementation may help in the presence of BH4 deficiency.
    Other supplements that may help are Slippery elm bark for the gut. And according to Dr. Yasko Molybdenum, EDTA, carnosine, and zinc may help balance the copper/zinc ratio.
    The CBS Upregulation is a complicated subject and for more info, I suggest purchasing or finding the book Autism: Pathways to Recovery. Searching for other websites or online support groups talking about the subject may be of help as well.
    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 activity.
    A homozygous mutation of MTR A2756G is relatively rare (<1%). 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.
    Nutritional support of MTR/MTRR
    According to Dr. Yasko's clinical experience, one should first take into account COMT V158M and VDR Taq status. She finds that those with COMT V158M + and VDR Taq - mutations often don't tolerate methyl donors well. She says that those with these mutations should carefully balance their ratio of Hydroxyl B12 and Methyl B12. She often suggests low dose cyano B12, adenosyl B12, and vitamin E succinate. High dose methylcobalamin (5 mg per day and above) may be implicated and necessary with this mutation - especially if one is homozygous and/or has MTRR + mutations. The level of B12 one needs depends often depends on the number and combination of these mutations. Like everything else, one should slowly build up doses of both methylcobalamin and/or hydroxocobalamin to avoid adverse effects.
    DMG and the supplement TMG also stimulate the BHMT pathway to convert homocysteine to methionine, but one should take caution if they are sensitive to methyl donors.
    Patients with MTR/MTRR may also benefit from the combination of GABA and L-Theanine. L-Theanine is a methyl donor. They may also benefit from taurine, Pycnogenol® pine bark extract, and grape seed extract.
    MAO-A R297R
    MAO-A (Monoamine oxidase A) is a critical enzyme involved in breaking down important neurotransmitters such as serotonin, norepinephrine, and dopamine. Males only have one allele since the gene is inherited through from their mother since it is located on the X chromosome. Only females can be heterozygous (+/-) for this mutation. When a (+/+) MAO-A mutation is combined with a (+/+) or (+/-) COMT V158M mutation, one may be more prone to develop Obsessive Compulsive Disorder (OCD), mood swings, aggressive and/or violent behavior, and personality disorders. Chronic infection can deplete tryptophan stores, and this can be tested with an organic acid test (OAT) and urine amino acid tests (UAA) according to Dr. Yasko. This test may indicate high levels of 5HIAA (5-hydroxy indole acetic acid).
    Nutritional support of MAO-A R297R
    Dr. Yasko says that her Mood S RNA formula and 5HTP may help balance serotonin. Furthermore, she satiates that BH4 deficiency (often caused by aluminum toxicity), increased levels of ammonia, and MTHFR A1298C are all factors that can negatively impact serotonin levels.
    There is not a whole lot of information out there on how to increase the activity of the enzyme. And while not nutritional, there is a product called Respen-A developed for Autism with intention of increasing MAO-A activity. Respen-A can only be obtained from a few compounding pharmacies and requires a prescription.
    COMT Mutations
    COMT (catechol-O-methyltransferase) helps break down certain neurotransmitters and catecholamines. These include dopamine, epinephrine, and norepinephrine. Catechol-O-methyltransferase is important to the areas of the pre-frontal cortex. This area of the brain is involved with personality, inhibition of behaviors, short-term memory, planning, abstract thinking, and emotion. COMT is also involved with metabolizing estrogens.
    COMT (-/-) individuals can usually break down these neurotransmitters efficiently, but COMT (+/+) individuals may have trouble breaking these chemicals down from impaired function of the enzyme. With a COMT + status, people may have trouble with methyl donors. This can lead to irritability, hyperactivity, or abnormal behavior. They also may be more sensitive to pain.
    Nutritional support of COMT mutations
    Since COMT + individuals often have trouble tolerating methyl donors, they tend to do better on a combination of hydroxy B12, adenosyl B12, and/or cyano B12. Methyl B12 is usually much easier to tolerate for those that are COMT (-/-).
    VDR Mutations
    VDR (Vitamin D Receptor) encodes the nuclear hormone receptor for vitamin D3. Low or low normal vitamin D values are often seen in those with chronic illness and even the general population. Low vitamin D is related to a lot of neurological and immunological conditions. Vitamin D stimulates enzymes that create dopamine.
    VDR Fok has been associated with blood sugar issues and poor pancreatic activity.
    With COMT V158M + and a VDR Taq + status, the body may have further trouble tolerating methyl donors. VDR Taq (-/-) individuals may already have higher levels of dopamine, and it's worth noting that combinations of variations COMT and VDR Taq can lead to a wide range of dopamine levels. Those that are VDR Taq (+/+) and COMT (-/-) may have lowest dopamine levels.
    Nutritional support of VDR Mutations
    Dr. Yasko advises patients to rotate methyl-containing supplements (instead of using them all daily) for those with COMT V158M + and VDR Taq (-/-).
    Ginkgo biloba may increase dopamine uptake. Small doses of Mucuna Pruriens contains natural dopamine, and can be helpful for those with low dopamine.
    VDR Fok + can impact vitamin D levels. Research shows that supplementing vitamin D may be beneficial. Sage and rosemary support vitamin D receptors. It may be necessary to support the pancreas when having a VDR Fok + mutation using vitamin and digestive/pancreatic enzymes.
    More information
    For more comprehensive information, you can look at these sources:
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  6. Crux

    Crux Senior Member

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    Hi All;

    Personally, I believe that being inclusive and welcoming to people who may not have a definitive ME/CFS diagnosis is a great opportunity.

    Since it's so difficult to pinpoint ME/CFS, we can all learn from people who come here with other diagnoses along with symptoms that correlate to ME/CFS.

    More can be confusing, but I would rather have that problem, than too little data.
     
  7. Crux

    Crux Senior Member

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    Hi Duhhbeach;

    I see you are hypothyroid....many people here are also, me too. I think that thyroid dysfunction is involved with ME/CFS, along with other conditions. For instance, PEM is brought up as a very important symptom of ME/CFS. I've found that taking thyroid meds. has helped my post exertional malaise more than anything I've tried.

    Hypothyroid is very difficult to diagnose and treat. Are you on a low dose because you have just begun treatment? Have you been tested after a time to see if freeT3 and free T4 are in optimal range?

    B12/ Folate deficiencies are often found with hypothyroid, and on this site.

    I think a methylation protocol could help you, but you may have to find the types and amounts that suit you.

    I did notice that you have some snps for autoimmune conditions, such as : STAT4, CTLA4, IFIH1, and IRF5. I also have some snps in these genes. I've been wondering if other folks here have some of these polymorphisms.

    It looks like a good idea that you are being careful with your diet. ( I could improve on that.)

    So, welcome, and thanks for bringing this analysis.
     
  8. Duhhbeach

    Duhhbeach

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    Lala
    Thank you Crux for the warm welcome :)
    I'm not sure I dont have other auto immune issues going on along with the Hashi's..God only knows I would not be surprised.
    I had a very highly positive ANA test about years ago highly suggestive of Lupus, I don't want to put my head in the sand about it but I am aware it is possible for it to manifest later but I feel I have a good fighting chance at stopping the the process now that I am armed with all this valuable information.

    I went to a Bio Identical MD last august and that is when I was diagnosed with Hashi's and given the Levoxothyrine..
    I was told that if my TPO ab comes down to a normal level and get my TSH to a normal level I will no longer need the meds. I was actually supposed to go back to the MD last month for her to check my levels of thyroid etc and I just cant afford it right now as it is all ot of pocket..the first visit was almost $1000 with the supplements!
    I got a hormone pellet implanted with Estriodol and testosterone and I am on sub lingul Progesterone.
    Im hoping to go back to see her at the end of the month for a new hormone pellet.

    The difference in how I feel since getting the pellet is literally night and day!
    No more night and day sweats...I am sleeping much better and I have a better overall outlook on life..
    I dont wake up tired and I feel more ALIVE than I have in years, however I still have these other issues I want to get worked out..I went to this doctor becuase I was at my wits end and she brought me back from the edge let me tell you..I believe I had early Menopause due to the hypothyroidism and also I took the stupid birth control pill since I was 17 years old up until I met my husband at 46..I am now 49 and done with Menopause. joy joy..
    And now I am on this low thiol/suphur diet and thst part sucks because I am a foodie and I really miss my FOOD!!
    I realize my health is more important so I will continue to suck it up..lol

    This forum is so helpful to me because no one really understands...friends, family..etc.
    Im sure many of you can relate..

    Thanks again for your response :)
     
    Crux likes this.
  9. Crux

    Crux Senior Member

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    Hi Duhhbeach,

    I'm glad you're improving from that 'fresh hell' of hormone deficiency.
    Congratulations on finding a mate!

    I must admit that the idea of removing the thyroid meds after you reach an optimal free T3, T4, and TSH sounds sketchy to me...

    I was on NDT (natural dessicated thyroid) for some years, then stopped because I thought the supplements, especially B12 would nail it, and, for a time the numbers looked pretty good. But, some months ago, I began to tank, and the free T3 and T4 began to drop, so I've restarted the NDT.

    Here's a link to the Metametrix analysis chart that includes recommendations for supplements that may help with the metabolism of sulfur and amino acids. B6 is brought up alot.

    http://www.metametrix.com/files/test-menu/interpretive-guides/amino-acids-ig.pdf
     
  10. Critterina

    Critterina Senior Member

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    @Duhhbeach ,

    Hi there, and welcome! It's a long journey back to health, but I've got great support from the people on this site. I'm sure you will, too.

    I don't see from your SNPs why you should be having ammonia problems or need to be on a low sulfur diet. Hmmm. Does the diet make you feel better? I just cant help wondering if it's something introduced with your protocol that is making more ammonia in your pee.

    The MTHFR A1298C doesn't keep you from making methylfolate, but from using it efficiently to make biopterin (BH4), which you need for several things, including neurotransmitters. There are a whole host of things associated with neurotransmitters problems - mood swings, autism, adhd, schizophrenia, migraines, bipolar, chemical sensitivities. If you don't have any of these things, count your blessings.

    When you supplement with methylfolate, you push the reaction to make BH4, which can then be used to make the neurotransmitters serotonin and dopamine. You have the homozygous MAO A SNP, though, so you will be slow to break down serotonin. It may (or not) cause mood swings. So if you supplement methylfolate, you need to start low and increase slowly.

    The MTR mutation is an upregulation, which means you would normally use up methylfolate by converting homocysteine back to methionine - a good thing. You will do it slightly faster than average because of the mutation... or you would, except there is another rate-limiting step, and that's the availability of methylB12. (You will still convert homocysteine back to methionine though, through a secondary pathway that uses BHMT. The BHMT 08 + SNP is the one that slows down the reaction, but your SNP is normal.)

    methylB12 is made by the MTRR A66G, and the + SNP is a downregulation, so less gets made. MTR needs both methylfolate and methylB12. So, when you have less methylB12, the MTR works at a slower rate. So, you would supplement with B12 to get this cycle going. But there are two finer point to make:
    1. You notice I said supplement with B12 and not methylB12. Because of the MAO A, you may react to the methylB12. Or not - not everyone with your SNPs does. But I don't want to suggest something that might make things worse. You can try it, of course, but you could also try hydroxyB12, which might be better.
    2. When you do have enough B12 for the MTR to work, it may shift the balance away from making biopterin, thus less neurotransmitters (and less biopterin for detox), and possible lowering of your mood. It will be a balance that you'll find through trial and error. Be patient and only change one thing at a time to find your balance.

    Fortunately you are heterozygous (+/-) for all of these (except the MAO A), so all of the pathways probably still work with at least 50% efficiency. Which I guess only means you could be a whole lot sicker. Let us know how you do. :)
     
    Last edited: Nov 1, 2013

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