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 November 25, 2014 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 November 25, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Tuesday, November 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

Newsy (Nov. 25, 2014) The US FDA is announcing new calorie rules on Tuesday that will require everywhere from theaters to vending machines to include calorie counts. Video provided by Newsy
Powered by NewsLook.com
Madagascar Working to Contain Plague Outbreak

Madagascar Working to Contain Plague Outbreak

AFP (Nov. 24, 2014) Madagascar said Monday it is trying to contain an outbreak of plague -- similar to the Black Death that swept Medieval Europe -- that has killed 40 people and is spreading to the capital Antananarivo. Duration: 00:42 Video provided by AFP
Powered by NewsLook.com
Are Female Bosses More Likely To Be Depressed?

Are Female Bosses More Likely To Be Depressed?

Newsy (Nov. 24, 2014) A new study links greater authority with increased depressive symptoms among women in the workplace. Video provided by Newsy
Powered by NewsLook.com
Winter Can Cause Depression — Here's How To Combat It

Winter Can Cause Depression — Here's How To Combat It

Newsy (Nov. 23, 2014) Millions of American suffer from seasonal depression every year. It can lead to adverse health effects, but there are ways to ease symptoms. 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