Featured Research

from universities, journals, and other organizations

Protein inhibitor points to potential medical treatments for skull and skin birth defects

Date:
May 15, 2012
Source:
Mount Sinai Medical Center
Summary:
Researchers have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata syndrome (BSS).

Researchers at Mount Sinai School of Medicine in New York have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata syndrome (BSS). Using a mouse model, investigators found that by inhibiting the protein p38, previously associated with cancer and certain autoimmune conditions, they were able to interrupt development of specific birth defects associated with it: craniosynostosis, or the premature fusion of certain bones of the skull, and acanthosis nigricans, a hyperpigmentation skin disorder that often makes the skin look dirty and rough.

Related Articles


"We urgently need to identify the molecular mechanisms underlying the development of these disorders so that we can design effective treatment and strategies," said Ethylin Wang Jabs, MD, the study's senior investigator and Professor of Genetics and Genomic Sciences, Developmental and Regenerative Biology, and Pediatrics at Mount Sinai School of Medicine. "What this opens up for the first time are potential targets for treatment."

Results from the study are published in the June 2012 Journal of Clinical Investigation.

Using a mouse model of Beare-Stevenson cutis gyrata syndrome, researchers found that there was an increase in intracellular signaling through p38. When Yingli Wang, DMD, PhD, used intraperitoneal injections of an inhibitor of p38 into the mouse in utero, the skull and skin defect improved. In a separate experiment, topical application to the skin of a p38 inhibitor helped the skin defect.

The skull disorder, craniosynostosis, has devastating consequences if surgery is not performed within the first 6 months of life. Excessive intracranial pressure prevents normal growth of the head, impairing the brain, the eyes, the ears, and cognitive development. Approximately 1 in 2500 newborns across all groups are born with this birth defect, making it one of the top 10 birth defects. The disorder is listed in birth registries in the United States.

The skin disorder, acanthosis nigricans (AN), causes hyperpigmentation, and there are no standard treatments for it. AN is common. Certain conditions increase the risk for AN, including insulin resistance, obesity, diabetes, and polycystic ovary disease. Some series have shown that as many as 74 percent of obese individuals and 36 percent of people with type 2 diabetes are parents of newborns with AN. The skin disorder is especially common in Native Americans, followed by African-Americans, Hispanics, and Caucasians.

Other researchers involved in the study were Yingli Wang, Xueyan Zhou, Kurun Oberoi, Robert Phelps, Amelie Rezza, Greg Holmes, Jenna Friedenthal, Michael Rendl of Mount Sinai School of Medicine.

The research was funded in part by the National Institutes of Health in Bethesda, Maryland. Dr. Jabs is a world-class leader in the study of craniosynosis.


Story Source:

The above story is based on materials provided by Mount Sinai Medical Center. Note: Materials may be edited for content and length.


Journal Reference:

  1. Yingli Wang, Xueyan Zhou, Kurun Oberoi, Robert Phelps, Ross Couwenhoven, Miao Sun, Amιlie Rezza, Greg Holmes, Christopher J. Percival, Jenna Friedenthal, Pavel Krejci, Joan T. Richtsmeier, David L. Huso, Michael Rendl, Ethylin Wang Jabs. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. Journal of Clinical Investigation, 2012; DOI: 10.1172/JCI62644

Cite This Page:

Mount Sinai Medical Center. "Protein inhibitor points to potential medical treatments for skull and skin birth defects." ScienceDaily. ScienceDaily, 15 May 2012. <www.sciencedaily.com/releases/2012/05/120515131317.htm>.
Mount Sinai Medical Center. (2012, May 15). Protein inhibitor points to potential medical treatments for skull and skin birth defects. ScienceDaily. Retrieved December 18, 2014 from www.sciencedaily.com/releases/2012/05/120515131317.htm
Mount Sinai Medical Center. "Protein inhibitor points to potential medical treatments for skull and skin birth defects." ScienceDaily. www.sciencedaily.com/releases/2012/05/120515131317.htm (accessed December 18, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, December 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Kids Die While Under Protective Services

Kids Die While Under Protective Services

AP (Dec. 18, 2014) — As part of a six-month investigation of child maltreatment deaths, the AP found that hundreds of deaths from horrific abuse and neglect could have been prevented. AP's Haven Daley reports. (Dec. 18) Video provided by AP
Powered by NewsLook.com
UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) — Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) — Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Why Your Boss Should Let You Sleep In

Why Your Boss Should Let You Sleep In

Newsy (Dec. 17, 2014) — According to research out of the University of Pennsylvania, waking up for work is the biggest factor that causes Americans to lose sleep. 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