Featured Research

from universities, journals, and other organizations

Mouse Model Provides A New Tool For Investigators Of Human Developmental Disorder

Date:
April 28, 2009
Source:
The Company of Biologists
Summary:
Scientists target a key human disease gene to create a mouse model of Wolf-Hirschhorn Syndrome. WHS is a human disease caused by spontaneous genetic deletions. Children born with WHS have a characteristic set of facial features, including a wide flat nose bridge, downturned mouth, high forehead, and highly arched eyebrows. Other symptoms associated with this disease include heart defects, seizures, mental retardation, and skeletal abnormalities, and the severity of these symptoms varies between individual WHS patients.

Wolf-Hirschhorn Syndrome (WHS) is a human disease caused by spontaneous genetic deletions. Children born with WHS have a characteristic set of facial features, including a wide flat nose bridge, downturned mouth, high forehead, and highly arched eyebrows. Other symptoms associated with this disease include heart defects, seizures, mental retardation, and skeletal abnormalities, and the severity of these symptoms varies between individual WHS patients.

While it was known that WHS is related to a genetic deletion in chromosome 4, the specific gene or genes affected were unknown. Now, a study by scientists at the European Molecular Biology Laboratory demonstrates that a gene called Fgfrl1 (Fibroblast growth factor receptor-like 1) plays a key role in WHS.

This report published in Disease Models & Mechanisms (DMM) describes how they modify the Fgrfrl1 gene so that it loses function, then express the gene in mice. Fgfrl1 in humans is located on the short arm of chromosome 4 and mice born with the modified Fgfrl1 gene have a variety of physical features that are similar to characteristics seen in WHS patients. For example, the mice are born with heart defects due to thickening of the cardiac valves, and they have abnormal facial and skeletal structures compared to normal mice. The mutant mice also have deformities in throat cartilage structures, which may provide insight to the swallowing and speaking difficulties experienced by many WHS patients.

This mouse model of WHS provides a valuable new tool for researchers studying this developmental disorder. It provides a new avenue for molecular research through study of Fgrf1 function, but also allows scientists to understand how structural defects might contribute to WHS symptoms, as is the case in the heart defects and swallowing difficulties.

The report, "Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice" was written by Catarina Catela, Daniel Bilbao-Cortes, Esfir Slonimsky, Paschalis Kratsios, Nadia Rosenthal and Pascal te Welscher of the European Molecular Biology Laboratory in Monterotondo, Italy. The report is published in the May/June issue of Disease Models & Mechanisms (DMM), a research journal published by The Company of Biologists, a non-profit based in Cambridge, UK.


Story Source:

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


Journal Reference:

  1. Catarina Catela, Daniel Bilbao-Cortes, Esfir Slonimsky, Paschalis Kratsios, Nadia Rosenthal and Pascal te Welscher. Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. Disease Models & Mechanisms, 2009; (in press) [link]

Cite This Page:

The Company of Biologists. "Mouse Model Provides A New Tool For Investigators Of Human Developmental Disorder." ScienceDaily. ScienceDaily, 28 April 2009. <www.sciencedaily.com/releases/2009/04/090421080206.htm>.
The Company of Biologists. (2009, April 28). Mouse Model Provides A New Tool For Investigators Of Human Developmental Disorder. ScienceDaily. Retrieved July 27, 2014 from www.sciencedaily.com/releases/2009/04/090421080206.htm
The Company of Biologists. "Mouse Model Provides A New Tool For Investigators Of Human Developmental Disorder." ScienceDaily. www.sciencedaily.com/releases/2009/04/090421080206.htm (accessed July 27, 2014).

Share This




More Health & Medicine News

Sunday, July 27, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Trees Could Save More Than 850 Lives Each Year

Trees Could Save More Than 850 Lives Each Year

Newsy (July 27, 2014) A national study conducted by the USDA Forest Service found that trees collectively save more than 850 lives on an annual basis. Video provided by Newsy
Powered by NewsLook.com
Google's Next Frontier: The Human Body

Google's Next Frontier: The Human Body

Newsy (July 27, 2014) Google is collecting genetic and molecular information to paint a picture of the perfectly healthy human. Video provided by Newsy
Powered by NewsLook.com
What's To Blame For Worst Ebola Outbreak In History?

What's To Blame For Worst Ebola Outbreak In History?

Newsy (July 27, 2014) A U.S. doctor has tested positive for the deadly Ebola virus, as the worst-ever outbreak continues to grow. Video provided by Newsy
Powered by NewsLook.com
Losing Sleep Leaves You Vulnerable To 'False Memories'

Losing Sleep Leaves You Vulnerable To 'False Memories'

Newsy (July 27, 2014) A new study shows sleep deprivation can make it harder for people to remember specific details of an event. 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:
from the past week

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