TITLE: Upper urinary tract pacemaker cells join the GLI club
Cornell University Medical College, New York, New York, USA.
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View this article at: http://www.jci.org/articles/view/46400?key=0a5cc11ee8d53fbb71cb
CARDIOLOGY: Possible new approach to treating two related multi-organ syndromes
LEOPARD syndrome and Noonan syndrome are two genetic conditions caused by mutations that affect the Ras signaling pathway. Individuals with either of these syndromes have a range of symptoms that often includes the potentially fatal heart condition hypertrophic cardiomyopathy. By generating and studying new mouse models of LEOPARD syndrome and Noonan syndrome, two teams of researchers have identified new ways in which the hypertrophic cardiomyopathy associated with these syndromes could perhaps be prevented or reversed with small-molecule inhibitors.
The team led by Benjamin Neel and Toshiyuki Araki, at University Health Network, Toronto, Canada, found that the hypertrophic cardiomyopathy associated with their new mouse model of Noonan syndrome was reversed by treatment with an inhibitor of the Ras signaling pathway component MEK. By contrast, the team led by Maria I. Kontaridis, at Beth Israel Deaconess Medical Center, Boston, and Benjamin Neel found that the hypertrophic cardiomyopathy associated with their new mouse model of LEOPARD syndrome was completely reversed by treatment with rapamycin, an inhibitor of the signaling protein mTOR.
As noted by Bruce Gelb and Marco Tartaglia, in an accompanying commentary, while the data generated by the two teams are exciting, because they suggest realistic therapeutic targets, they ar
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Journal of Clinical Investigation