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Worse 23andMe results (11 reds and 27 Yellow) but Normal Red Cell folate levels

Discussion in 'Genetic Testing and SNPs' started by IpadAddict, Jul 10, 2013.

  1. IpadAddict


    Hello everyone

    First post, new to the wacky world of methylation and since getting my 23andMe results last week have been in a state of anxiety and concern for me, my kids and my siblings and their kids. Plus doing a lot of research. Managed to aggravate family who don't understand significance and me telling them they must get tested also. Mother said she would rather not know etc..

    However from what I have read being homozygous for C677T predicts a low Red Cell folate levels but when I was tested in 2011 using CLINIPATH Australia the level was 876 ug/L (267-1023) or 50 nmol/L which seems OK right? Homocysteine was 11.6 umol/L. At this time I did supplement for 3 months with sublingual b12 and follinic acid but never got re-tested.

    Have purchased hydroxycobalamin and metafolin but don't want to dive in especially after reading about CBS and BHMT on heartfixer and need to test sulphur and ammonia levels which are probably high on my Very low Carb (on a good day) diet.

    Main symptoms are chronic rsi type pain in wrists for last ten years, general fatigue and lack of energy, brain fog etc. 44 year old Male been on Paleo gluten free + dairy last three years.

    Here are my results which seem to have a lot of reds and yellows

    Really appreciate any advice on what to do next. I did get hair analysis for heavy metals and all low-normal but apparently it is not reliable.

    ADD1 G460W rs4961 +/+
    BHMT rs16876512 +/+
    BHMT rs6875201 +/+
    COMT H62H rs4633 +/+
    COMT V158M rs4680 +/+
    DAO rs3741775 +/+
    GAD1 rs3791878 +/+
    MTHFD1L rs17349743 +/+
    MTHFR C677T rs1801133 +/+
    MTHFS rs6495446 +/+
    NOS3 rs3918188 +/+

    AGT M235T/C4072T rs699 +/-
    BHMT-04 rs617219 +/-
    BHMT R239Q rs3733890 +/-
    CBS C699T rs234706 +/-
    DAO rs2111902 +/-
    FUT2 rs492602 +/-
    FUT2 rs601338 +/-
    FUT2 rs602662 +/-
    GAD1 rs2241165 +/-
    GAD1 rs769407 +/-
    GAD1 rs2058725 +/-
    GAD1 rs3791851 +/-
    GAD1 rs3791850 +/-
    GAD1 rs701492 +/-
    GAD1 rs769395 +/-
    MTHFD1L rs6922269 +/-
    MTHFD1L rs803422 +/-
    MTRR A66G rs1801394 +/-
    MTRR-11 A664A rs1802059 +/-
    MTRR rs10520873 +/-
    MTRR rs1532268 +/-
    PEMT rs4244593 +/-
    PEMT rs7946 +/-
    SLC19A1 rs1888530 +/-
    SLC19A1 rs3788200 +/-
    TYMS rs502396 +/-
    VDR Bsm rs1544410 +/-

    Other labs that concern me are below though maybe not related to methylation
    Test Type Test Sub Type Result Range Unit of measure
    Thyroid Function Thyroid Stimulating Hormone (TSH) 0.92 0.4-3.5 Mu/l
    Fasting Glucose 5.60 3.0-5.4 mmol/L
    ANA 1.40
    Thyroid - Blood Thyroid Stimulating Hormone (TSH) 1.20 0.40-3.50 mU/L
    Thyroid Function Thyroid Peroxidase Ab (TPO) 34.30 <34 IU/mL
    Cardiovascular Disease Risk - Blood Homocysteine 11.60 <7 umol/L
    Iron Studies - Blood Ferritin 66.00 30-500 ug/L
    Thyroflex Reflex 151.00
    AdrenoCortex Stress Profile (ASI) - Saliva Cortisol Morning 72.70 6.0-42.0 nmol/L
    AdrenoCortex Stress Profile (ASI) - Saliva Cortisol Daily Total 95.00 11.0-76.0 nmol/L
    AdrenoCortex Stress Profile (ASI) - Saliva DHEAS/Cortisol AM Ratio 0.08 0.20-0.60 Ratio
    Sex Hormones - Saliva Progesterone (P4) 1593.00 <159 pmol/L
    Sex Hormones - Saliva Estradiol (E2) 40.00 <6 pmol/L
    Sex Hormones - Saliva Estrone (E1) 50.00 9.6-20.0 pg/mL
    Hair mineral Analysis Calcium 168.00 22-97
    Hair mineral Analysis Potasium 1.00 2-24
    Hair mineral Analysis Molybdenum 0.00 .003-.008
    Thyroid Function - Blood Thyroid Stimulating Hormone (TSH) 1.08 Mu/l
    Thyroid Function - Blood Thyroid Peroxidase Ab (TPO) 70.00 IU/mL
    roxie60 likes this.
  2. IpadAddict


    Above were just for Methylation I might as well post Detox results but have not investigated these

    CYP1B1 R48G rs10012 +/+
    CYP2D6 S486T rs1135840 +/+
    SOD2 rs2758331 +/+
    SOD2 A16V rs4880 +/+
    CYP2C19*17 rs12248560 +/-
    CYP2D6 T100C rs1065852 +/-
    CYP2D6 T2850C rs16947 +/-
    GSTP I105V rs1695 +/-
    NAT2 A803G (K268R) rs1208 +/-
    NAT2 T341C (I114T) rs1801280 +/-
    SOD2 rs2855262 +/-
  3. caledonia


    Cincinnati, OH, USA
    I hear you on family members not getting it or wanting to ignore it. Out of my family, the ones with problems are interested, but the ones without problems aren't. The older ones seem resigned to keep the status quo. Some people don't want to go into all the effort and expense of making lifestyle changes and taking supps.

    You can have the most horrible red and yellow SNPs in the world, but if they're not expressed, you won't have problems. But with your problems, it sounds like at least some of them are expressed.

    Does this Red Cell folate test measure what's actually getting into the cells, or just what's floating around in the blood? What's getting into the cells is the important thing. I didn't think there was a test directly for this, but you could sort of figure it out with the HDRI methylation panel.

    I don't consider myself an expert on thyroid by any means, but it looks like your antibodies are trending high. This could indicate the start of autoimmune thyroiditis. I had this and my antibodies were like 300. Gluten and metals, especially mercury can affect the thyroid. Also lack of iodine or chloride, fluoride, or bromide clogging the iodine receptors. High dose vitamin C is supposed to fix the latter problem.

    Also something wonky is going on with your adrenals. That's pretty par for the course - if you have problems with thyroid, that will affect the adrenals and vice versa. I've had good luck with methylation partially helping both my thyroid and adrenals.

    So you're already gluten free, which is good. It's possible for metals not to show up on tests until you start methylation or address gut or viral infections. The infection bugs will hold onto metals. If you've ever had mercury fillings, you probably have some mercury still stored away in your body somewhere.

    So like you were saying, your First Priority mutation is CBS, and you have several BHMTs which will add to CBS. So that is the place to start. Note, it took me several months for me for this step, so a lot of patience is in order. Another clue that this is expressed, is if you're having trouble tolerating methyl B12 or other methyl supps. It should be a stress/anxiety type reaction.

    I'm a fan of ignoring all the detox type SNPs until after methylation is taken care of - just too much to deal with.

    ps. just figured out what RSI means - repetitive stress injury - that can be linked to hypothyroidism.
  4. Beyond

    Beyond Juice Me Up, Scotty!!!

    Murcia, Spain
    IpadAddict how did you get such a comprehensive array of SNP´s? Its obviously more than genetic genie.
  5. IpadAddict


    roxie60 and Beyond like this.
  6. IpadAddict


    Hi caledonia

    thanks for your response. I will definetly look into heavy metals chelation options and removal of my mercury amalgams plus get an organics acid test from Great Plains laboratories. This test was mentioned in recent podcast from Erin Chamerlik interviewing Autism expert Kurt N. Woeller, although he did not touch on methylation did go into links between Autism and vacinations, gut health, prenatal advice, diet etc. Love Erin's podcasts - she has such a soothing and wise persona.

    This is information from the Clinipath website
    Specimen required: 1 x EDTA
    Department: Biochemistry
    Reference range: 267-1023 ug/L
    Note: If FOLATE is requested, Red Cell Folate will be assayed.
    Red cell folate is less affected by diet than serum folate and is an indication of total body folate.
    Specimen required: Serum (1 x SST) + 1 x ETDA
    Department: Biochemistry
    Reference range: NORMAL 4.6 - 20 ug/L
    DEFICIENT < 2.32 ug/L
    Note: Serum folate reflects folate absorption in the past week. Only assayed if SERUM Folate is
    specified, as Red Cell Folate is the assay of choice.
  7. Beyond

    Beyond Juice Me Up, Scotty!!!

    Murcia, Spain
    Ahhh I knew it! Mthfrsupport! Sterling Hill and some more are doing a great deal of investigation it seems, Yeah I agree, well spent. Not a lot of money anyway, specially for us the "chronically" ill that spend thousands upon time with our efforts to get well. And thats the case only for those of us that are not rich, others will spend way more.
  8. roxie60

    roxie60 Senior Member

    Central Illinois, USA
    I am also going to be doing an Organis OAT test soon. I am reluctant because I am feeling better and think I should wait to take these tests when I am feel much worse.....torn
  9. roxie60

    roxie60 Senior Member

    Central Illinois, USA
    Welcome Ipad. you have a lot of homo and hetero but it is hard to know what to say with out knowing what the risk allele is for each. You could be listing a homozy but it might be ++ and green, we dont know without knowing the risk allele. If you have them do you know the risk allelles for each snp?
  10. roxie60

    roxie60 Senior Member

    Central Illinois, USA
    sounds like we are on a similar program. I am trying to elliminate dairy (have eliminated eggs), gluten, wheat and now my neurologist wants me to eliminate protein (all meat).
  11. IpadAddict


    Hi roxie60 et al

    Apologies I missed your replies. Have attached 23andMe non green condensed results.

    For some reason genetic genie flagged VDR taq +- but the MTHFR Support report did not include it.

    As an aside my haplogroup J1c2c1 is related to last male of the plantagenats Richard III. See

    Any suggestions for next steps. I was thinking previous low Molybdenum score despite being on multivitamins at the time does indicate CBS upregulation

    So thinking next steps for me are

    1. Take 5g Methylcobalamin to see how I react
    2. Get urine sulphate strips (Anyone know where in UK?)
    3. Get Great plain Organic Acids Test (£140)
    4. Get Methylation Panel from Netherlands (£250)
    5. Depending on results of above go on low sulphur/thiol diet for two months
    6. Retest urine
    7. Start a MTHFR protocol

    Given I have potentially had these methylation issues for a long time - what other things should I be concerned about? I am currently reading excellent book by "Why Isn't My Brain Working" by Datis Kharrazian and am thinking Dopamine levels have been suppressed for long time due to homozygous COMT and symptoms of brain fog, poor memory lack of motivation for early age.

    Last week I did start taking liquid hydroxycobalamin and on one day I was very chipper and upbeat but then mild headache following day. I have ordered methylcobalamin after reading Freddd's comments and appeal to evolutionary need for this and will go down this route despite others recommending Hydroxycobalamin and dangers of ODing the methylation cycle. I am doing 1.6g of Metafolin in the AM with no obvious downsides but have only being doing this for few days.

    Is there any way this can be done with high dose natural foods such as seafood,organ meats, green leafy vegetables. I am thinking of protocol similar to Terry Wahls + Dr. Jack Kruse.

    Speaking of Jack Kruse I am big fan and has anyone else looked into effects of EMF on methylation. I have been in IT 25 years surrounded by blue light and emfs - I have large number of mutations - can these be created by EMFs / issues with cell timing - are there more mutations happening now than say 10 years ago? Are mutatations an evolutionary response to an altered environment? Are there people who take the 23andMe test and have very few mutations and can we correlate these with their lifestyle or ancestors lifestyle/environment?

    Electromagnetic Radiation, RSI and Endothelial nitric oxide synthase (eNOS) uncoupling
    With regards RSI/Fibromyalgia I did find this 2009 link from Rich suggesting connection between EMR, myelin sheaths and CFS.

    and I found a paper that suggested that RSI pain is symptom of reduced endothial nitric oxide

    So, due to CBS upregulation does this mean BH4 is reduced which affects production of nitric oxide which causes vasodilation

    Attached Files:

  12. Bluebell

    Bluebell Senior Member

    Seems to me you are already at step number 7! :p
  13. IpadAddict


    Fair point, I am in patient and unemployed so lack of finances dictate. Also I am doing 1.6mg not 1.6g of Solgar metafolin. Have been eating mussels regularly so think b12 levels not too bad.

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