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Crohn's Disease Forum » Books, Multimedia, Research & News » Rare Autoinflammatory Disease Cause Found


03-31-2016, 01:01 PM   #1
xeridea
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Rare Autoinflammatory Disease Cause Found

Researchers have discovered the cause of a rare immune disease, which they've newly named PAAND, that is similar to but uniquely distinct from Familial Mediterranean Fever. What makes this stand out is that they identified the gene mutation, the exact biochemistry that leads to the auto-inflammation, and a specific therapeutic target for controlling the disease.

The results might provide insight into the processes underlying Crohn's.

Their research centered around pyrin:

Masters and colleagues further determined how the mutation in PAAND patients causes pyrin to go awry. When pyrin senses toxins released by some kinds of bacteria, it spurs formation of a structure called the inflammasome that in turn triggers inflammation. To prevent pyrin from switching on prematurely, cells typically shield it with another protein until they are in trouble. But the scientists found that this shield falls off the version of pyrin that the Belgian family produced, resulting in an overactive molecule. “In effect you take away the brake,” says co-author Adrian Liston, an immunologist at the University of Leuven in Belgium.

There have been previous discussion on this forum regarding this inflammatory pathway.

https://www.google.com/url?q=http://...RSb2jvx7A9I6sQ

https://www.google.com/url?q=http://...NPZIdTYJuwVgSw
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