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Common rarity in 7 out of 7 ME/CFS patients based on 23andMe results

Discussion in 'Genetic Testing and SNPs' started by Valentijn, Oct 25, 2013.

  1. SOC

    SOC Senior Member

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    Depression can manifest as fatigue, but fatigue does not equal ME/CFS or even CFS. Fatigue is a symptom of many illnesses. ME/CFS is a complex multisystem disorder including autonomic and immune dysfunction among a number of other problems. Depression is NOT a symptom of ME/CFS. Some people with ME/CFS have reactive depression after having their lives destroyed by this horrific illness, but that's true of most people with severe chronic illness.
     
    L'engle and Valentijn like this.
  2. WoolPippi

    WoolPippi Senior Member

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    I'm CT.
     
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  3. taniaaust1

    taniaaust1

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    Im so glad that you are trying to work it out Valentijn. I personally think that one of us who have the disorder is more likely to figure out the answers to this illness then a scientist due to the lack of those studies and funding.

    Im right now excited to read of your finding and will try to find out what mine is in a moment. We could end up being the first patient group who ends up solving their own illness. We have results easily in our hands and we have the internet to compare with one another. We actually do have a lot of power to be able to sove our own illness if people work together to do so..
     
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  4. taniaaust1

    taniaaust1

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    Valentijn.. Im CT for that gene. I soo think you've made an important discovery.
     
    Last edited: Nov 12, 2013
    Valentijn likes this.
  5. taniaaust1

    taniaaust1

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    From the replies now (removing thou the two who said they werent diagnosed with ME/CFS as I think thats important as anyone who isnt may not have all the proper ruling out of as much as possible). That leaves 36 responses.

    Out of those there are 5 TT homo (amazing result if this only occurs normally in 1 out of 100!!), 12 are CT hetero and 19 dont have a mutation.. CC. This needs proper further research!!!! We are getting close to 50% who have a mutation in this gene so I think its highly revelent even without those startling TT results esp when we also know there are lots of misdiagnoses of ME/CFS.

    Those who dont have offical ME/CFS diagnoses please say and it would be great if all those of the CC group shared if they have at least CC CFS or not for better analyses of what could be going on.. Out of those who are CC, I think quite a few dont have CC CFS or ME international defined ME. As we all know how important it is to subgroup, it would be great to know how many dont there thou now that Ive had a better look, I know at least several there do fit CC CFS or ME defintions. (I was surprised to see a few with similar ME to me in the CC group).

    TT
    allyb
    Gypsy A
    rosie60
    Blue
    Crux

    CT
    nandixo
    sea
    Valentijn
    Gypsy A daugher
    Clodomir
    bel canto
    annie likes red
    Aileen Kimsie
    Helen
    Wool Pipi
    Taniaaust1

    CC
    dsdmon
    mabelark
    adreno
    ukxmrv
    thinktank
    Lucys
    Hip
    brenda
    snow athlete
    caledonia
    creekee
    biophile
    wordweaver27
    Ruthie24
    Alklein
    Ema
    acer2000
    sickofsickness
    rawcreamqueen
    .......

    Can we get a researcher interested in this who could do a study which could be published? Maybe we could draw attention of this to the 23andME company themselves as they do studies and put out their findings. They could be excited if someone put an exciting discovery right down for them to take on and get the full credit for the discovery.
     
    Last edited: Nov 12, 2013
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  6. ukxmrv

    ukxmrv Senior Member

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    Thanks Val for such a great effort. I'm CC (just doubled checked 23 and ME)

    My original dx was ME as per Ramsay in the UK. From an outbreak in the mid-80s.

    Also meet the criteria for ME/CFS as per the Canadian criteria.
     
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  7. howirecovered

    howirecovered Senior Member

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    I'm CC and have CFS
     
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  8. rebecca1995

    rebecca1995 Apple, anyone?

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    I'm CT.

    I have severe ME.
     
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  9. cafe

    cafe

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    I am TT
     
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  10. cafe

    cafe

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    I have been diagnosed with CFS/ME just recently although probably suffering from it for almost 10 years after a "flue"....
     
  11. twilightsun

    twilightsun

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  12. catly

    catly Senior Member

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    I'm CT and have been diagnosed with CFS.
     
  13. leela

    leela Slow But Hopeful

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    CC here.
     
  14. maryb

    maryb iherb code TAK122

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  15. Valentijn

    Valentijn Activity Level: 3

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    CC
     
  16. maryb

    maryb iherb code TAK122

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    @Valentijn
    thank you - little star:):):)
    of course I have no idea what it means............
     
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  17. Valentijn

    Valentijn Activity Level: 3

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    CC is the common variant in the general public.

    Something I've been working on is compiling a list of the most shared rare SNPs in ME/CFS patients, and looking to see if they trace back to a common gene. Thus far, there are 29 rare SNPs shared by at least 3 (out of 16) ME/CFS patients in the homozygous form which are on genes that either affect AKT1 or affect genes which affect AKT1.

    That's after removing likely false positives, based on prevalence in the 7 controls (people who certainly do not have ME/CFS/CF or even fatigue or pain) . Positive results shared by only 3 patients were also removed if 2 of those patients were relatives, to err on the side of caution.

    So that produces the following results (C1-C7 are controls, P1-P16 are ME/CFS patients):
    cluster1.gif

    The average number of rare homozygous mutations on these genes is 6.9 for patients and 0.4 for controls.

    I only had partial data (rare homozygous mutations) for P10-P16, hence, hence the general lack of heterozygous mutations shown for them. Patient P5, who has a low number of shared rare homozygous mutations sounds like a pretty typical moderate or worse ME/CFS patient, as defined by CCC/ICC, and without any other obvious explanation for her symptoms. So it would seem that there's still a problem with either not detecting all of the relevant SNPs, or the entire theory is wrong. But the other low scoring patient, P12, doesn't have typical CCC/ICC ME/CFS symptoms, though he does have some shared issues.

    Anyhow, this might be an indication that instead of a specific SNP or gene being relevant, their relationship to another gene is the significant factor. Hence AKT1 might be causing a similar set of problems in different people, based on mutations in different genes which are having a fairly direct impact on AKT1. So even though you don't have the rare version of that one SNP, a combination of other SNPs might be having the same impact.

    If anyone wants to use 23andMe to look up their genotypes for these SNPs, here's a text list including the rare allele:
    rs13118884 A
    rs10457667 A
    rs1338457 A
    rs6799780 G
    rs11791618 C
    rs10735443 A
    rs1946282 G
    rs6816809 A
    rs476951 A
    rs11057369 A
    rs4720309 A
    rs4279979 G
    rs17762542 G
    rs5965630 A
    rs6786329 C
    rs2979001 T
    rs2221513 G
    rs952061 T
    rs36880 C
    rs137954 G
    rs17780664 G
    rs17133109 A
    rs17321293 C
    rs2417266 C
    rs2139567 T
    rs13133587 T
    rs7912364 A
    rs11907065 C
    rs12732188 A

    If anyone wants to give me their data for these SNPs, and hasn't already given me their full 23andMe results or rare homozygous results, please post here or send them to me in a private message/conversation if you want to keep them anonymous. It also helps very much if you specify which definition of ME/CFS you meet the criteria of. But full 23andMe results or homozygous rare results are even more useful, if you feel comfortable sharing them.
     
    Last edited: Nov 21, 2013
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  18. leela

    leela Slow But Hopeful

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    Well, Val, whatever it is, there is *clearly* something going on here.
    Even though a small sample group, the obvious weightedness in the patient group compared to controls
    could be a real selling point/motivator towards getting serious science pointed at this illness.

    Bowing deeply to you for doing this, with total certainty that this will lead to a beneficial outcome.
     
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  19. maryb

    maryb iherb code TAK122

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    @Valentijn
    thank you so much for this, all your hard work is truly appreciated.
     
    Last edited: Nov 21, 2013
    merylg and Valentijn like this.
  20. Snow Leopard

    Snow Leopard Senior Member

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    I'm CT too.
     
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