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'ROCK' off: Study establishes molecular link between genetic defect and heart malformation
Date:2/6/2012

s to assess the nature of the anatomical defects, and discovered that actin filaments proteins responsible for giving structure to the cardiac muscle cells -- were the ones affected.

Conlon and his collaborator Joan Taylor, PhD, an associate professor of pathology and laboratory medicine at UNC, then tested whether they could reverse the heart malformation using a drug called fausidil that had been shown to improve cardiac function in animal models of heart failure. The drug blocks a protein called ROCK that resides in the same neighborhood or pathway of intracellular processes as SHP-2.

The researchers dissolved the drug in the mutant frogs' water tank and found that it did correct the cardiac defects. Their findings connect the dots between Noonan syndrome's underlying genetic defect and the resulting cardiac malformations.

"The human mutations could have been linked to anything, proliferation or cell death, and what this study does is it links it to cell shape changes, which are mediated by this important molecule ROCK," said Conlon. "Our lab studies heart development and heart disease, so we are interested in how this one set of mutations specifically target that one organ. Why the heart? We still have to figure that out."


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Contact: Les Lang
llang@med.unc.edu
919-966-9366
University of North Carolina School of Medicine
Source:Eurekalert  

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'ROCK' off: Study establishes molecular link between genetic defect and heart malformation
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