New Atmosphere, New Vision: Gibson and Whittemore Kick Off Invest in ME Conference 2016
Mark Berry reports on Dr. Gibson's introduction and Dr. Whittemore's keynote speech, at the 11th Invest in ME International ME Conference in London.
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Multiple copies of the alpha tryptase gene are associated with IBS, hypermobility, POTS, etc

Discussion in 'Other Health News and Research' started by A.B., Oct 18, 2016.

  1. A.B.

    A.B. Senior Member

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    https://www.nih.gov/news-events/new...over-genetic-explanation-frustrating-syndrome
     
  2. BurnA

    BurnA Senior Member

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  3. Sidereal

    Sidereal Senior Member

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    Another psychosomatic disorder bites the dust.
     
  4. A.B.

    A.B. Senior Member

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    Tryptase is secreted by activated mast cells. I wonder if this could explain food and chemical sensitivities.

    PS: Wikipedia says mast cells mainly produce beta tryptases, whereas basophils mainly produce alpha tryptase.
     
    Last edited: Oct 18, 2016
    cfs6691, Augmentum and Valentijn like this.
  5. Sidereal

    Sidereal Senior Member

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    It's an explanation, but not THE explanation. Many people with MCAS have normal tryptase levels. Nonetheless, this is an interesting paper. Seems to be describing the clinical syndrome we've seen anecdotally reported online thousands of times involving the trifecta of joint hypermobility, dysautonomia and MCAS, plus attendant features like migraine and GI disturbance.
     
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  6. adreno

    adreno PR activist

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    AndyPR and A.B. like this.
  7. AndyPR

    AndyPR Senior Member

    The child in me was amused by this
    I know where I'd prefer to get it from. Sorry, I'll let the adults continue with the discussion now.. :)
     
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  8. Jenny TipsforME

    Jenny TipsforME Senior Member

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    A couple of questions:

    Can I tell if I have these mutations/extra copies from 23andme data? I've had a quick look and drew a blank, but maybe wasn't looking for the right thing.

    Lactoferrin sounds interesting anyway. Something I hadn't heard of. I drink that lactofree cows' milk - will the lactoferrin have been taken out with the lactose? /am I likely to react to lactoferrin seeing as I get symptoms from lactose? I don't really fancy getting it from snot!

    Does anyone here already take lactoferrin for another reason?
     
  9. Valentijn

    Valentijn Senior Member

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    23andMe doesn't test for SNPs on that gene (TPSAB1). But they probably wouldn't be able to handle extra copies anyhow.
     
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  10. Cheesus

    Cheesus Senior Member

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    Is tryptase something that people often test for or is that from published research? I've never heard of it.
     
  11. alex3619

    alex3619 Senior Member

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    My guess is that snp testing is the wrong type of test for this. We are looking at duplicate genes, not gene defects. Such gene duplication is actually common. Indeed, the evolution of grass, if I recall correctly, required four entire genomes be duplicated.

    One thing that snp testing might lead to though, if the genes are duplicated, is some copies might be one type, and other copies another type, so you might have multiple different snps, maybe quite a few.
     
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  12. anciendaze

    anciendaze Senior Member

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    It is a standard test for mastocytosis which is a severe disorder quite distinct from MCAS.
     
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  13. Sidereal

    Sidereal Senior Member

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    If I recall correctly they're testing for it in the NIH intramural study.
     
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  14. taniaaust1

    taniaaust1 Senior Member

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    nods very interesting paper as Ive believed for a while there is genetic link between mast cell disorders, ME/CFS, Autism and EDS ...mutual genes all crossing over. So this study is a further link in my thoughts of these conditions are all related by genes.

    I have the severe ME/CFS, dysautonomia, Autism (aspergers is no longer a diagnoses here) and Im 95% sure some kind of mast cell disorder and have been diagnosed as having a connective tissue disorder but they dont know what exactly.

    daughter has EDS (hyper flexible) and Autism and skeletal deformatories, my father has autism

    uncle (fathers brother) has systemic mastocytosis (severe mast cell disorder) I think he has dysautonomia too.
    that uncles daughter has same ME/CFS symptoms as I do but is without a diagnoses as their family believe she has mast cell disorder. She could easily be given ME/CFS diagnoses
    another uncle also has a daughter with ME/CFS

    I do not currently (well didnt last time I was tested and the time before) have elevated trypase. My uncle though when tested for trypase his first 2 tests were normal though his symptoms were severe .. it took 3 tests over time to find an abnormal typase going on (it took his life threatening mast cell issue 10 years for a diagnoses).
     
  15. taniaaust1

    taniaaust1 Senior Member

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    I think that many who are getting MCAS diagnoses probably do actually have mastocytosis as it can be very hard to get diagnosed with it and the trypase testing which the doctors usually use to test to see if one can have it can be negative as its been found in my family in member which later turned out to actually have systemic mastocytosis. His first two trypase for it were negative.

    He's told me that many with this take many years to get diagnoses and that the trypase test is unreliable for finding it. (the gold standard is bone marrow testing but then even then it can missed if it turns out the sample is in a place where there wasnt as much build up of mast cells).
     
  16. anciendaze

    anciendaze Senior Member

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    Mastocytosis involves a runaway process producing mast cells, paralleling runaway production of white blood cells in leukemia. There is no official etiology for mastocytosis.

    Nobody knows why mast cells proliferate to life-threatening levels. We do know that nobody with a serious shortage of mast cells has ever been found, indicating these are necessary for life. We also know they are more densely clustered near sensitive tissues like the eyes. Since they cluster around wounds, and appear to play a role in healing, there is some reason to believe they multiply in response to signals indicating damage to healthy tissues.

    Without a firm etiology, the question of whether or not proliferation of mast cells has become a runaway process is a subjective call by the doctor. Precautions for emergency personnel are the same for mastocytosis and MCAS, leading some people with MCAS to wear Medic Alert tags for mastocytosis even if the doctor who knows them best does not believe they have excessive numbers of mast cells. (This doesn't stop them from having a higher percentage of active mast cells.)

    Until we have some idea of underlying causes the distinction between the two will be somewhat arbitrary.
     
  17. Hutan

    Hutan Senior Member

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    http://www.prohealth.com/library/showarticle.cfm?libid=29620

    A nice write up of the study by Cort.
    One Gene, Many Disorders: Could One Gene Help Explain ME/CFS, FM, POTS, IBS, EDS, IBS and Others

    One interesting point from the study for me was this:
    So, I assume massive genome studies like MEGA would not pick up this complex copy number variation which required some special techniques to identify.
     
    trishrhymes likes this.

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