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One Gene, Many Disorders: Could One Gene Help Explain ME/CFS, FM, POTS, IBS, EDS, IBS and Others

  [ 53 votes ]   [ 2 Comments ]
By Cort Johnson • www.ProHealth.com • November 6, 2016


One Gene, Many Disorders: Could One Gene Help Explain ME/CFS, FM, POTS, IBS, EDS, IBS and Others
Reprinted with the kind permission
of Cort Johnson and 
Health Rising.
 
ME/CFS, FM, POTS, IBS, EDS and others often exist in a kind of swarm of interconnected illnesses. All have been maligned at one time or another because of the wide range of symptoms they produce. How could a biological disease cause so many different symptoms?
 
After this week, perhaps a better question is how could one gene cause them. Check out an astonishing study that pinpointed a gene that may wreak havoc in some people in all these disorders. For those people, help – perhaps even a cure – might not be that far off.
 
First, at least for me, there was chronic fatigue syndrome (ME/CFS) and fibromyalgia (FM). Then I learned about irritable bowel syndrome (IBS), then POTS and in the last five years, Ehler’s-Danlos (EDS) and Mast Cell Activation Syndrome (MCAS).
 
The more researchers looked, the more they seemed to uncover a large group of syndromes which tended to flock together. Anyone who has ME/CFS or FM now has to consider whether they also might have dysautonomia, IBS, POTS, MCAS and a host of other disorders (interstitial cystitis, migraine, multiple chemical sensitivities, small fiber neuropathy).
 
Obviously, this suite of disorders is connected somehow, but the question – what is the tie that binds? – has remained. The wide range of symptoms – from flushing to gut problems to chronic pain to orthostatic intolerance to connective tissue problems – had defied understanding – and helped psychologists to get their feet in the door.
 
Now the NIH of all groups – never really a friend to any of these – may have uncovered a link that may explain them for some people.
 
Family Study
 
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1
 
The researchers did what a Simmaron Research Foundation study is currently doing with ME/CFS:  they zeroed on a set of families with these problems and studied them intensively. First, increased levels of an immune factor called tryptase which is sometimes associated with mast cell activation showed up. Researchers did not find signs of altered mast cell growth or morphology or increased IgE degranulation or tryptase expression; i.e., they said they found no indication of mastocytosis or mast cell activation disease (MCAS). Despite the high tryptase levels, they believed the disease they uncovered was more akin to connective tissue disorders such as Ehlers-Danlos Syndrome (EDS) than MCAS. 

Mast cells have often been implicated in certain functional disorders; however, our patients did not have evidence of clonal mast cell disease or evidence of mast cell activation, whereas many did have connective tissue manifestations overlapping with those seen in EDS III. The authors

Of the 96 people from 35 families’ studies, almost 50% met the criteria for IBS, 65% met the criteria for chronic gastroesophageal reflux, 28% had joint hypermobility, 48% had arthritis, 47% had headache or body pain, a full quarter had congenital skeletal problems, 46% had autonomic issues and 34% had POTS. Other common issues included flushing and pruritus (51%), itching and sleep disruption (39%) and exaggerated reactions to venom.
 
Fatigue wasn’t measured but since fatigue is common in all these disorders, it was likely quite high. (Many of these individuals probably would have met the criteria for fibromyalgia or chronic fatigue syndrome (ME/CFS).)
 
Extra Sequences Spell Trouble
 
The group’s genetic secrets were not yielded easily. First exome and genome sequencing found no common gene variants, but a linkage analysis identified a single “peak” on one chromosome – a section of the chromosome containing the 4 genes responsible for producing tryptase. 
 
Further testing found that individuals containing multiple copies of a tryptase encoding sequence were highly, highly, (highly) likely (p<.000001) to have high tryptase levels. This is the kind of probability that’s probably considered a slam dunk in genetics; everyone who carried multiple copies of this tryptase-producing sequence had high tryptase levels and a wide range of sometimes bizarre symptoms. Plus, the more copies of the copies of the sequence an individual had, the worse off they were symptomatically. None of the family members without these sequences had any symptoms.
 
Tryptase is the most common enzyme found in mast cells and is often used as a marker for mast cell activation. Interestingly, none of the individuals had evidence of mast cell activation syndrome. If tryptase was causing their symptoms, it was doing so in a different way than is ordinarily associated with MCAS. (MCAS is apparently called a syndrome for a reason.)
 
After identifying a genetic anomaly associated with high tryptase levels in families, it was time to see if it showed up in other groups. A retrospective analysis of people who’d had genomic analyses done for other disorders indicated that all the individuals with increased serum tryptase levels had multiple copies of the tryptase encoding sequence.
 
Next, the researchers turned to a healthy control group, and again found that all the individuals with increased tryptase levels had multiple copies of the tryptase encoding gene. (Three of the “healthy controls” turned out to have similar symptoms as the original cohort; the rest were either normal or had minor problems.)
 
New Disease
 
It’s rare that genetic effects are so clear. In fact, the genetic effects were so clear that the condition is now called hereditary-a tryptasemia. This disease is “exclusively caused” by increased copy numbers of the tryptase-producing sequence.
 
Exactly how elevated tryptase levels are causing pain and autonomic nervous symptoms is not clear but may involve “protease-activated 2 receptor pathways” (if that’s any help – lol). The study highlights, though, that it’s not necessary to understand a disease to find a treatment for it. Knowing that elevated tryptase levels cause pain, connective tissue problems and orthostatic intolerance, even if we don’t know how, can allow researchers to develop anti-tryptase blockers that could conceivably stop these symptoms in their tracks.
 
Tryptase can be tested for, and in fact, around five percent of the population, or over 15 million people in the U.S., have high tryptase levels. Most of them are probably asymptomatic but those who are ill could benefit greatly from this finding. It's very rare to find such a clear genetic link and such a clear treatment pathway. 
 
NIH Admits It Was Not All in Their Head After All
 
The NIH itself noted that this study should give hope to people with complex multi-system disorders who, too often, have ended up being told their unusual symptoms must be “all in their head.” It was obviously high on this work. It’s not often that a clear cause of an illness – let alone a spectrum of illnesses – may have been found. In fact, the NIH was so excited that it produced a video about the finding and sent out a press release featuring none other than our old “friend,” Dr. Anthony Fauci, the Director of NIAID.
 
Chronic fatigue syndrome’s relationship with NIAID and Fauci is a complex one; NIAID is the only Institute to ever fund ME/CFS research centers, but its abandonment of ME/CFS in the early 2000s ushered in 15 years of declining funding. That obviously didn’t endear anyone to Fauci or NIAID, but now NIAID and NINDS do appear to be doing the lion’s share of the work in the ME/CFS Working Group at the NIH.
 
Plus, seeing NIAID crow over its genetic finding for a complex multi-symptom condition is a good thing. One of the reasons NIAID abandoned ME/CFS was because it was a complex multi-symptom, multi-systemic condition. The multiple system issue gave NIAID an out; because ME/CFS clearly wasn’t simply an immune disease it decided it was no longer responsible for it. Fifteen years later, ironically, as NIAID begins to welcome ME/CFS back, it has found an immune factor that causes multiple symptoms and produces a multiple system disease.
 
Next up for this group: developing a diagnostic test to detect alpha tryptase gene copies and finding ways to block tryptase production. For people with extra copies of this gene and who are ill, the news is good indeed. Few diseases, after all, can be traced to one factor. Pharmaceutical companies are surely combing their drug databases for drugs with tryptase-inhibiting pathways.
 
Thanks to The SolveME/CFS Initiative for highlighting this study on their website. Without their doing that, I would have missed it entirely.

About the Author: ProHealth is pleased to share information from Cort Johnson.  Cort has had myalgic encephalomyelitis /chronic fatigue syndrome for over 30 years. The founder of Phoenix Rising and Health Rising, he has contributed hundreds of blogs on chronic fatigue syndrome, fibromyalgia and their allied disorders over the past 10 years. Find more of Cort's and other bloggers' work at Health Rising.



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Article Comments Post a Comment

Excellent review
Posted by: IanH
Nov 9, 2016
Having read this paper I can see how this is ground-breaking for people diagnosed with FM and possibly with ME/CFS. I am sure it fits with so many people's familial pattern.

I would also recommend reading on the involvement of PAR2 in inflammatory pain. AS the authors note "
On the basis of clinical phenotypes, including pain and connective tissue abnormalities, a compelling case could be made for activation of protease-activated receptor 2 (PAR2)-dependent pathways."

Cell-surface protease-activated receptor (PAR) 2 is coexpressed with pro-inflammatory neuropeptides substance P (SP) and calcitonin gene-related peptide (CGRP) on sensory nerves, where it mediates neurogenic inflammation. New evidence now links peripheral PAR2 activation to hyperalgesic responses via release of SP in the spinal cord
Reply Reply

 
strong connection
Posted by: IanH
Nov 9, 2016
Hence there is a VERY strong connection between chronically elevated a-tryptase (rather than activated mast-cell release) and the PAR2 pathway.

 

 
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