The power and pitfalls of omics part 2: epigenomics, transcriptomics and ME/CFS
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Newly diagnosed Compound heterozygous mthfr with cbs, comt mao & ahhhh nobody near me to treat!

Discussion in 'Genetic Testing and SNPs' started by Jennifer1723, May 15, 2017.

  1. Jennifer1723

    Jennifer1723

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    • Hello everyone! I just recently had my 23&me done. In the past week I have driven myself crazy! Some people say one persons' approach is this...other people say that. Other than cleaning up diet, no folic acid, no chemicals, no reg b12,detox etc. I am pretty confused. It seems some genes are more important than other. I have the compound hetero mthfr, & I have also read CBS needs treated first. My daughter has very similar mutations as well (although some are homo where mine are hetero & also the opposite) & I am desperate for us both to feel better. For 13 years I have struggled so hard to live the poor quality of life that I have.....I am anxious to start supplementing, but worried about making things much worse. (Tried TMG & felt extremely moody/weepy/severely depressed) So afraid of making any more mistakes! Thank you for reading this! Hope to learn a lot from this group! I have fibro & chronic fatigue, migraines, sleep apnea & hypothyroid, i think i have copper toxicity & very confused about my iron issues to say the least!

      Also if dairy blocks folate....can't you just eat dairy away from your folate veggies or supplements or does it not work like that? Holy cow epigenetics is complicated! There should be a dummies book for it! Complete with how much to take of each supplemet.

      Heterozygous:

      mthfr c677t
      mthfr A1298c

      homozygous:
      VDR TAQ
      Mao-A R297R
      CBS A360A

      heterozygous:

      COMT V158M BHMT -02
      COMT H62H BHMT -08
      MTR A2756G AHCY -01
      MTRR A66G AHCY -19
      MTRR A664A
      MTRR 11
      VDR fok Ff
     
    Maya24 likes this.
  2. alicec

    alicec Senior Member

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    You don't know if you are compound heterozygous for MTHFR - 23andme doesn't say which strand has which result.

    Even if you are it just means the enzyme is slowed to a similar extent to C677T +/+. This in turns means that some folate supplementation would probably be wise.

    The only other SNPs which have an effect are the first COMT which would slightly slow the enzyme and the MTR and first MTRR SNP which combined mean the enzyme is slowed a little.

    Supplementation with the respective cofactors magnesium and B12 may be helpful.

    The rest of the SNPs have little to no effect.

    All of these SNPs are very common. They are not the cause of your health problems. At best a few of them might be making a contribution.
     
    Sea, Valentijn and echobravo like this.
  3. Jennifer1723

    Jennifer1723

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    Thanks Alicec. When I ran my results though genetic genie it said I was compound hetero for mthfr. So I guess they got that from my data.

    I will definitely try adding some folate & B12. I am already taking magnesium. So if my SNP's don't appear to be that significant....do I need to worry about amounts of folate & B12 or just start with one pill. I think I just read so many horror stories of people feeling much worse & needing niacin.

    Are their any other co-factors to be aware of?

    Thanks again for your response!!!
     
  4. Sea

    Sea Senior Member

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    It is a mistaken understanding on their part to say that. They cannot get that information from your data because 23andme do not conduct their test in such a way that the information can be found. Much more detailed tests are required to determine that.
    Compound heterozygous does not simply mean having 2 mutations. It means one mutation from one parent and one mutation from the other, ie both strands of the gene affected. As opposed to both mutations from one parent and thus having one fully functioning strand.
     
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  5. alicec

    alicec Senior Member

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    Start low and increase slowly is the general rule. Some people are very sensitive to these vitamins but many on PR report benefit so it is worth persisting.

    Here is a post I wrote for a very sensitive person. You will need to gauge your own responses and adjust accordingly.
     
    Jennifer1723 likes this.
  6. Helen

    Helen Senior Member

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    I try to alert @kday, who created Genetic Genie. Maybe heĀ“ll read this.

    Thanks @Sea, and also @alicec for your always informative posts.
     
    Sea likes this.
  7. Jennifer1723

    Jennifer1723

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    Thanks Alicec & Sea! I understand a little more & am definitely going to start slow. I appreciate the info. & glad to hear from people who have experience.
     
    Jennifer J and Sea like this.

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