International ME/CFS and FM Awareness Day Is On May 12, 2018
Thomas Hennessy, Jr., selected May 12th to be our international awareness day back in 1992. He knew that May 12th had also been the birthday of Florence Nightingale. She was the English army nurse who helped to found the Red Cross as well as the first school of nursing in the world.
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SERPINA1 and A1-Antitrypsin Deficiency

Discussion in 'General ME/CFS Discussion' started by mariovitali, May 4, 2018.

  1. mariovitali

    mariovitali Senior Member

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    I wanted to point your attention to Antitrypsin Deficiency.

    Many of you have sent me their DNA Data so i have a number of DNA files of ME/CFS individuals but also from individuals having other syndromes including Post-Finasteride Syndrome, Post-Accutane Syndrome and others.

    As already discussed i sent an email to @Janet Dafoe (Rose49) with a 32-page document outlining the elements of the Hypothesis as to what is behind ME/CFS.

    I would also like to disclose that the same 32-page document was forwarded to :

    a) Professor Maureen Hanson (Cornell University)
    b) Professor Derya Unutmaz (Jackson Labs)
    c) Professor Richard Deth (Northeastern University)

    ...hoping that they will find useful information that could help them progress their Research.

    Their first comments are very supportive so let's keep our fingers crossed.


    From this document we read :
    Screen Shot 2018-05-04 at 11.51.32.png


    I would kindly ask you to look for SNPs in the following Pathogenic Genes :


    rs17580 - Risk 'A'
    rs61761869 - Risk 'A'


    I will forward these Genes to them so they may evaluate to their Cohorts.

    In my Cohort of 64 people, around 10% were found to have rs17580 risk allele and 1 was found to have the rs61761869 Allele
     
    Last edited: May 4, 2018
    Ema likes this.
  2. Runner5

    Runner5 Senior Member

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    PNW
    Parasites are listed under bacteria....that's just...bothering my OCD so oooo ooo much
     
  3. mariovitali

    mariovitali Senior Member

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    Well spotted, Thank you
     
    Last edited: May 4, 2018
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  4. drob31

    drob31 Senior Member

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    Could change it to "pathogens" and still be correct.
     
  5. Gondwanaland

    Gondwanaland Senior Member

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    'A' allele is good for this SNP
     
  6. mariovitali

    mariovitali Senior Member

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    @Gondwanaland : According to dbsnp, A is the Minor Allele Frequency with 0.01 and it is Pathogenic.

    You can also search in PR for Antitrypsin Deficiency, it has been mentioned quite some times.

    @All

    it should becoming more clear that there are so many "Liver Stressors" that could potentially set the stage for ME/CFS. Unfortunately in the "Gallbladder and Bile Acid Circulation " section of the 32-page document i forgot to add Holecystectomy : (Removal of Gallbladder)

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891205/

    Although i cannot be certain on the ultimate result, this is why i see the Theory of "Metabolic Trap" as overly simplistic for the problem at hand. Of course it may help some patients.
     
    Last edited: May 5, 2018
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  7. Ema

    Ema Senior Member

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    Midwest USA
    TT

    GG
     
  8. mariovitali

    mariovitali Senior Member

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    @Ema @Gondwanaland

    Thank you for providing your results. I am trying to explain as much as i can the different faces that "Liver Stressors" can take. For some it may be Hemochromatosis, for others Gilbert's for others NAFLD...even Rocky Mountain Fever.

    So according to this Theory each ME/CFS patient should look for any of the number of Liver Stressors being listed on the Google sheet i sent.

    Problems can hide notoriously well. For example i was talking to a girl, waiting for the "a-ha" moment where a Liver stressor is identified. It didn't happen so nothing Liver-related was found.

    Then she came back to me the next day, saying that she asked her mother to tell her for any incidences and sure enough she had an incidence of white stools (= probably means cholestasis) when she was a very young .
     
    Last edited: May 5, 2018
  9. mariovitali

    mariovitali Senior Member

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    Has anyone else managed to see these SNPs?

    rs17580 - Risk 'A'
    rs61761869 - Risk 'A'
     
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  10. Dan_USAAZ

    Dan_USAAZ Senior Member

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    Phoenix, AZ
    I am rs17580(A;A). This SNP is a little confusing, as per what @Gondwanaland posted, Prometheus lists this genotype as the common, low/no risk variant.

    Also, SNPedia states the following in regard to this SNP:

    "Due to orientation, be careful when interpreting results for this SNP which is an ambiguous flip."

    SNPedia describes the ambigious flip as follows.
    This issue appears to relate to this SNP, but my limited knowledge of genetics does not allow me to fully understand how to interpret correctly.
     
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  11. mariovitali

    mariovitali Senior Member

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