Featured Research

from universities, journals, and other organizations

Mouse Model Might Help Individuals With The Genetic Disorder Costello Syndrome

Date:
May 20, 2008
Source:
Journal of Clinical Investigation
Summary:
Researchers have developed a new mouse model of Costello syndrome (CS) -- an inherited disorder that affects many parts of the body, causing multiple symptoms; for example, effects on the brain and heart result in mental retardation and structural heart defects, respectively.

A team of researchers at the CSIC/University of Salamanca and the Centro Nacional de Investigaciones Oncolσgicas, Spain, has developed a new mouse model of Costello syndrome (CS) -- an inherited disorder that affects many parts of the body, causing multiple symptoms; for example, effects on the brain and heart result in mental retardation and structural heart defects, respectively. The authors believe this new mouse model of CS will be useful for evaluating potential therapeutic strategies for individuals with CS, as there is currently no treatment for the disease.

CS is caused by mutations in the H-RAS gene, and the mouse model of CS was generated by engineering mice such that their H-Ras gene contained one of the mutations found in individuals with CS. The mice were found to have many, but not all, of the symptoms of CS. For example, they had abnormally shaped faces and heart defects. The mice also developed high blood pressure as they aged, something that has been documented for few individuals with CS (however, the author speculate that this might have gone undetected because most patients with CS do not undergo regular medical checkups after reaching adulthood).

The high blood pressure was caused by abnormal upregulation of a protein known as Ang II and was prevented by treatment with a drug used to treat individuals with high blood pressure that inhibits the generation of Ang II. As some of the heart defects were also less severe after treatment with the drug, the authors suggested that some of the heart defects might be secondary changes in Ang II expression rather than direct effects of mutation of the H-RAS gene.


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. A mouse model for Costello syndrome reveals an Ang II--mediated hypertensive condition. Journal of Clinical Investigation. May 15, 2008.

Cite This Page:

Journal of Clinical Investigation. "Mouse Model Might Help Individuals With The Genetic Disorder Costello Syndrome." ScienceDaily. ScienceDaily, 20 May 2008. <www.sciencedaily.com/releases/2008/05/080516163212.htm>.
Journal of Clinical Investigation. (2008, May 20). Mouse Model Might Help Individuals With The Genetic Disorder Costello Syndrome. ScienceDaily. Retrieved October 2, 2014 from www.sciencedaily.com/releases/2008/05/080516163212.htm
Journal of Clinical Investigation. "Mouse Model Might Help Individuals With The Genetic Disorder Costello Syndrome." ScienceDaily. www.sciencedaily.com/releases/2008/05/080516163212.htm (accessed October 2, 2014).

Share This



More Health & Medicine News

Thursday, October 2, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Pregnancy Spacing Could Have Big Impact On Autism Risks

Pregnancy Spacing Could Have Big Impact On Autism Risks

Newsy (Oct. 1, 2014) — A new study says children born less than one year and more than five years after a sibling can have an increased risk for autism. Video provided by Newsy
Powered by NewsLook.com
Robotic Hair Restoration

Robotic Hair Restoration

Ivanhoe (Oct. 1, 2014) — A new robotic procedure is changing the way we transplant hair. The ARTAS robot leaves no linear scarring and provides more natural results. Video provided by Ivanhoe
Powered by NewsLook.com
Insertable Cardiac Monitor

Insertable Cardiac Monitor

Ivanhoe (Oct. 1, 2014) — A heart monitor the size of a paperclip that can save your life. The “Reveal Linq” allows a doctor to monitor patients with A-Fib on a continuous basis for up to 3 years! Video provided by Ivanhoe
Powered by NewsLook.com
Attacking Superbugs

Attacking Superbugs

Ivanhoe (Oct. 1, 2014) — Two weapons hospitals can use to attack superbugs. Scientists in Ireland created a new gel resistant to superbugs, and a robot that can disinfect a room in minutes. Video provided by Ivanhoe
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