Featured Research

from universities, journals, and other organizations

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.

Related Articles


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.


Story Source:

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 5, 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 5, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, March 5, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Bupa Eyes India Healthcare Opportunities

Bupa Eyes India Healthcare Opportunities

Reuters - Business Video Online (Mar. 5, 2015) Bupa is hoping to expand in India&apos;s fast-growing health insurance market, once a rule change on foreign investment is implemented. The British private healthcare group&apos;s CEO tells Grace Pascoe why it&apos;s so keen on the new opportunity. Video provided by Reuters
Powered by NewsLook.com
Doctor in Your Pocket Is Getting Smarter

Doctor in Your Pocket Is Getting Smarter

Reuters - Business Video Online (Mar. 5, 2015) Mobile apps are turning smartphones into a personal doctors, with users able to measure heart rate, blood pressure and even blood sugar. But will it change our behaviour? Ivor Bennett reports from the Mobile World Congress in Barcelona. Video provided by Reuters
Powered by NewsLook.com
AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

Newsy (Mar. 5, 2015) AbbVie announced Wednesday it will buy cancer drugmaker Pharmacyclics in a $21 billion deal. Video provided by Newsy
Powered by NewsLook.com
Toddlers Drinking Coffee? Why You Shouldn't Share Your Joe

Toddlers Drinking Coffee? Why You Shouldn't Share Your Joe

Newsy (Mar. 5, 2015) A survey of Boston mothers and toddlers found that 15 percent of two-year-olds drink coffee and 2.5 percent of 1-year-olds. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins