Noonan syndrome is a relatively common genetic disorder characterized by short stature, unique facial features, and heart defects. About 10%-15% of affected individuals have mutations in their SOS1 gene. A team of researchers, led by Raju Kucherlapati, at Harvard Medical School, Boston, has now generated mice expressing a Sos1 mutation associated with Noonan syndrome and used them to identify potential therapeutic targets for the treatment of individuals with Noonan syndrome. Specifically, the team found that the Ras/MAPK signaling pathway as well as the Rac and Stat3 proteins were activated in the hearts of the mutant mice. However the authors caution that normalizing signaling from all of these pathways and proteins might be required for successful amelioration of the entire spectrum of Noonan syndrome symptoms.
TITLE: Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation
AUTHOR CONTACT:
Raju Kucherlapati
Harvard Medical School, Boston, Massachusetts, USA.
Phone: 617.525.4445; Fax: 617.525.4440; E-mail: rkucherlapati@partners.org .
View this article at: http://www.jci.org/articles/view/43910?key=27ff3f3327b6f864e09a
Journal of Clinical Investigation