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Possible new drug targets for the genetic disorder Noonan syndrome

November 1st, 2010

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.

More information:
www.jci.org/articles/view/4391 … 27ff3f3327b6f864e09a

Provided by Journal of Clinical Investigation

Citation: Possible new drug targets for the genetic disorder Noonan syndrome (2010, November 1) retrieved 16 August 2026 from https://sciencex.com/wire-news/50071213/possible-new-drug-targets-for-the-genetic-disorder-noonan-syndro.html

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