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Possible new drug targets for the genetic disorder Noonan syndrome

Date:
November 1, 2010
Source:
Journal of Clinical Investigation
Summary:
Noonan syndrome is a relatively common genetic disorder characterized by short stature, unique facial features, and heart defects. About 10-15 percent of affected individuals have mutations in their SOS1 gene. Researchers have now generated mice expressing a Sos1 mutation associated with Noonan syndrome and used them to identify potential therapeutic targets for the treatment of this condition.

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.

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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.


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The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. Peng-Chieh Chen, Hiroko Wakimoto, David Conner, Toshiyuki Araki, Tao Yuan, Amy Roberts, Christine E. Seidman, Roderick Bronson, Benjamin G. Neel, Jonathan G. Seidman, Raju Kucherlapati. Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation. Journal of Clinical Investigation, 2010; DOI: 10.1172/JCI43910

Cite This Page:

Journal of Clinical Investigation. "Possible new drug targets for the genetic disorder Noonan syndrome." ScienceDaily. ScienceDaily, 1 November 2010. <www.sciencedaily.com/releases/2010/11/101101125945.htm>.
Journal of Clinical Investigation. (2010, November 1). Possible new drug targets for the genetic disorder Noonan syndrome. ScienceDaily. Retrieved March 28, 2015 from www.sciencedaily.com/releases/2010/11/101101125945.htm
Journal of Clinical Investigation. "Possible new drug targets for the genetic disorder Noonan syndrome." ScienceDaily. www.sciencedaily.com/releases/2010/11/101101125945.htm (accessed March 28, 2015).

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