Featured Research

from universities, journals, and other organizations

Mechanism behind cleft palate development identified

Date:
September 29, 2010
Source:
The Mount Sinai Hospital / Mount Sinai School of Medicine
Summary:
Researchers have found a new mechanism that explains why a certain gene mutation causes craniofrontonasal syndrome, a disorder that causes cleft palate and other malformations in the face, brain and skeleton. Cleft palate affects one of every 1,000 newborns.

Researchers from Mount Sinai School of Medicine have found a new mechanism that explains why a certain gene mutation causes craniofrontonasal syndrome (CFNS), a disorder that causes cleft palate and other malformations in the face, brain, and skeleton. Cleft palate affects one of every 1,000 newborns.

The research is published in the September 15 issue of Genes & Development.

Previous research has shown that a mutation in a gene called ephrin-B1 caused abnormalities in facial development, but researchers were uncertain of how. Philipe M. Soriano, PhD, Professor, Developmental and Regenerative Biology, and Jeffrey O. Bush, PhD, Postdoctoral Fellow, Developmental and Regenerative Biology, both at Mount Sinai School of Medicine, studied mice embryos that were genetically engineered to have a mutation in the ephrin-B1 gene. They determined that ephrin-B1 controls craniofacial development by signaling cells to multiply. When there is a mutation in this gene, it causes anomalies in the cell proliferation process.

"Common thinking has been that ephrin-B1 only guided cells in craniofacial development," said Dr. Soriano. "We were surprised to learn that, instead, this gene signals for cells to multiply, providing us with a clear understanding of why craniofacial development is abnormal when a mutation is present."

Drs. Bush and Soriano also wanted to determine why females with one normal copy of the ephrin-B1 gene are more severely malformed than males who have no copy of the gene at all. They found that female mice embryos with this type of mutation had a so-called "mosaic" cell proliferation, meaning cell multiplication is disrupted in some areas while developing normally in others. This creates abnormal craniofacial development.

"Craniofacial anomalies are among the most common human birth defect," said Dr. Bush. "Our findings represent a critical step forward in understanding how cleft palate and other malformations develop, and will hopefully bring us closer to finding ways to prevent or treat these abnormalities."

Drs. Bush and Soriano plan to study ephrin-B1 further by identifying which molecules work in conjunction with it and how. Gaining a further understanding of the signaling mechanisms of this gene will likely lead to designing prevention and treatment strategies.


Story Source:

The above story is based on materials provided by The Mount Sinai Hospital / Mount Sinai School of Medicine. Note: Materials may be edited for content and length.


Journal Reference:

  1. J. O. Bush, P. Soriano. Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries. Genes & Development, 2010; 24 (18): 2068 DOI: 10.1101/gad.1963210

Cite This Page:

The Mount Sinai Hospital / Mount Sinai School of Medicine. "Mechanism behind cleft palate development identified." ScienceDaily. ScienceDaily, 29 September 2010. <www.sciencedaily.com/releases/2010/09/100914171317.htm>.
The Mount Sinai Hospital / Mount Sinai School of Medicine. (2010, September 29). Mechanism behind cleft palate development identified. ScienceDaily. Retrieved September 21, 2014 from www.sciencedaily.com/releases/2010/09/100914171317.htm
The Mount Sinai Hospital / Mount Sinai School of Medicine. "Mechanism behind cleft palate development identified." ScienceDaily. www.sciencedaily.com/releases/2010/09/100914171317.htm (accessed September 21, 2014).

Share This



More Health & Medicine News

Sunday, September 21, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone in Lockdown to Control Ebola

Sierra Leone in Lockdown to Control Ebola

AP (Sep. 21, 2014) Sierra Leone residents remained in lockdown on Saturday as part of a massive effort to confine millions of people to their homes in a bid to stem the biggest Ebola outbreak in history. (Sept. 20) Video provided by AP
Powered by NewsLook.com
Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) A study suggest antidepressants can kick in much sooner than previously thought. Video provided by Newsy
Powered by NewsLook.com
Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. 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