Discussion in 'Other Health News and Research' started by A.B., Oct 18, 2016.
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Another psychosomatic disorder bites the dust.
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.
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.
Tryptase sounds like nasty stuff. Lactoferrin is a potent tryptase inhibitor, btw:
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..
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?
23andMe doesn't test for SNPs on that gene (TPSAB1). But they probably wouldn't be able to handle extra copies anyhow.
Is tryptase something that people often test for or is that from published research? I've never heard of it.
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.
It is a standard test for mastocytosis which is a severe disorder quite distinct from MCAS.
If I recall correctly they're testing for it in the NIH intramural study.
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).
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).
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.
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.
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