Review: 'Through the Shadowlands’ describes Julie Rehmeyer's ME/CFS Odyssey
I should note at the outset that this review is based on an audio version of the galleys and the epilogue from the finished work. Julie Rehmeyer sent me the final version as a PDF, but for some reason my text to voice software (Kurzweil) had issues with it. I understand that it is...
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Genetic SNPs Report from Nutrigenomic practitioner

Discussion in 'Genetic Testing and SNPs' started by ChrisD, Apr 22, 2017.

  1. ChrisD

    ChrisD Senior Member

    East Sussex
    My nutritionist was also qualified in Nutrigenomics so gave me the opportunity to have my 23andMe/MTHFRsupport data converted into something a bit more palatable in a time where I didn't have the time or concentration to focus on researching something so complex.

    It was a little rushed as she was on her way to moving abroad, but I would just like to know if anyone has any thoughts on it? whether she is getting to the point or looking at the wrong areas. It is not incredibly thorough and she refers to my Genova ONE test quite a bit (To avoid confusion)

    Let me know if you make anything interesting of it:

    SNPs to consider:
    CYP1A2 +/+; 1B1 +/+; 2C19 +/+; 2D6 +/+; NAT2 & SOD2 +/-; MTRR: MTR +/-; DHFR +/-; MTHFR C677C & A1298C +/-; BHMT r239Q & R239Q +/-, BHMT C6457T +/+; FUT2; DAO; GAD1; MAO-A +; PEMT; TCN1 +/-; VDRTAQ +/-; NDUFS377 +/-;COMT V158M & H62H & T26501G +/+; G6PD +; ; GSS; GST; DBH, DDC; PAH, BDT

    Possible Underlying Causes & Commentary
    • Within the methylation cycle, methionine pathway seems to be your worst area (MTR, MTRR, BHMT).The methionine synthase reductase (MTRR) A66G polymorphism for which you are +/+ is an important polymorphism affecting conversion to methylcobalamin and can require high levels of injection or supplementation. These SNPs that may be impacting B12, this is reflected in the ONE test, but we are waiting for further confirmation on B12 status with methylmalonic acid test from your GP.

    • Important to note, some of your SNPs COMT V158M +/+ and COMT H62H +/+ along with VDR Bsm +/- dictate that the best form of B12 is not methyl B12 as you may have issues when given high dose methyl donors such as methyl b12, methylfolate, trimethylglycine and caffeine, it can cause a huge storm of anxiety and panic. Maybe this explains your problems with coffee?

    • Additionally, all these reactions are Zinc dependant- Interestingly your ONE test shows Zinc deficiency which will be further impacting these enzyme reactions. We spoke about biotin deficiency causing hair loss but low levels of zinc can also be causative. Your HMA test showed elevated copper. Zinc and copper compete with each other for absorption in the digestive tract. Most common source of copper contamination is from drinking water coming from copper pipes in older houses. Lead, colbat, cadmium, nickel and mercury are zinc antagonists. It would be useful to investigate this further with a heavy metal challenge test, and also seeing as you have SNPs which could interfere with detoxification of heavy metals (GSTP1 I105V) (GENOVA TOXIC ELEMENT CLEARANCE PROFILE £82), and start chelation therapy, if indicated. Other useful nutrient are B6, FAD, NAD, SAMe, of which FAD (B2) show low on ONE test. FAD is also required for DMGDH enzyme in which you have snps, this is reflected in your ONE test as elevated sarcosine.
    • CBS gene converts hcy to cystathionine, this metabolite was undetectable in your OAT test suggesting an issue there. So GP Hcy test is recommended.
    • You have a few SNPs which may affect detoxification: CYP1A2, CYP1B1, CYP2C19, CYP2C9, CYP2D6, NAT2, GSTP1, GS, GSR, G6PD.
    • PHASE I detoxification-

    • CYP1A2 (Oestrogen and xenobiotics)- support with cruciferous vegetables.

    • CYP1B1, most of your detox SNPs lay here, detoxification of oestrogen, carcinogens from charred foods- support by eating clean- organic, GMO free, BPA free, limit charred foods, make sure dairy, meat etc. is organic.

    • CYP2C19 (drug metabolism-sertraline, citalopram, Valium, omeprazole)

    • CYP2D6- metabolism of various psychotropic drugs and codeine. Results in altered efficacy and adverse events, consider alternatives.

    • CYP2C9 slow metabolism of ibuprofen, diclofenac, celecoxib, piroxicam, warfarin

    • Phase II detoxification-

    • NAT2 (acetylation) - associated with multiple chemical sensitivity due to inhibited ability to detox environmental toxins, again clean living (food, toiletries, cleaning products, not smoking) will all help to not burden this pathway.

    • GSTP1 I105V- (Glutathione) Minimize exposure to xenobiotics, including polycyclic aromatic hydrocarbons (e.g., cigarette smoke) and toxic metals. Increase cruciferous veg and alliums. Eat plenty brightly coloured veg to boost antioxidants.

    • GSS & GSR (Glutathione)- indicate a possible need for glutathione, esp. with the SNPs in the methionine pathway and CBS SNP which could be affecting glutathione synthesis in the transfsulfation pathway & G6PD which could be further impacting glutathione status, but we will start off with addressing methionine cycle as mentioned above. Your ONE test results also indicate that your glutathione status is OK

    • G6PD (Glutathione) you are hemizygous for all of these genes, with one being positive for a mutation. It is also involved with energy and hormones.
    • Your MTHFR heterozygosity may have some effect on folate status, again further confirmation from GP folate test will be beneficial. A diet rich in folate foods is often sufficient where heterozygosity is present (leafy greens, eggs, liver, asparagus, broccoli, romaine lettuce etc. remember to cook lightly as cooking can easily destroy folate.
    stridor likes this.

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