NIH Scientists Uncover Genetic Explanation for Frustrating Syndrome


[Joshua Milner] “My lab usually tries to find genetic causes of allergic diseases, and we saw a bunch of families that were sent to us because they looked like there might be something running in the genes. They had
a lot of symptoms that really were very disruptive, and they also had some bone
and joint problems. Within an individual family, there might be one person who had everything on the list and a mom or a dad who, yeah, they kind of remembered having lots of belly pain throughout their life, but they just thought that was normal. And then we drew a lab that made it clear that they had something running in their
family that no one had ever seen running in a family before, and the lab was called a serum tryptase. We were able to do a special kind of a genetic analysis that lets us find the address of where the problem is, and once we found the
address of where the problem was, we made a special test to actually see the fact
that they had an extra copy of tryptase in their genes.” [Jonathan Lyons] “And it turned out that all the families and all the individuals in those families who had
high tryptase and had these symptoms had at least one extra copy of this, of this,
alpha tryptase gene.” [Joshua Milner] “So what really got us confused and wondering what was going on is that, in some of the families, the mom and the dad of an infected patient both had high tryptase and both had the extra copy of tryptase. And so we
were confused–how could that be if this is a rare disorder? What are the odds? We looked into a database that’s here at the NIH of healthy volunteers, and we did
this test on hundreds of people. And to our shock, it was present in maybe four to six percent of the folks we looked in.” [Jonathan Lyons] “You know, five percent of the population is a lot of people. Do that many people have the symptoms that we see our
families? And the answer is ‘no,’ but many do. And surprisingly more than we would
have thought did. So we really think there’s a strong signal in terms of the
association between tryptase and many of these symptoms.” [Joshua Milner] “This research helped answer the first question, which is ‘what’s really going on?’ That’s now our chance to take a step
back from bringing in all of these patients, to now moving into the next
stage, which is ‘what are the things we can do to fix this?’ And now we look forward to the long but important process of moving to the next phase of
trying to cure this.”

7 Comments

Add a Comment

Your email address will not be published. Required fields are marked *