Featured Research

from universities, journals, and other organizations

Gene Mutation Responsible For Crohn's Disease Inflammation Identified In Temple Study

Date:
October 16, 2003
Source:
Temple University
Summary:
A mutation in one of the genes that might be responsible for the inflammation that characterizes Crohn's disease has been identified by researchers at Temple University's School of Medicine (TUSM).

A mutation in one of the genes that might be responsible for the inflammation that characterizes Crohn's disease has been identified by researchers at Temple University's School of Medicine (TUSM).

Their study, "The mutation Ser511Asn leads to N-glycosulation and increases the cleavage of high molecular weight kininogen in rats genetically susceptible to inflammation," appears in the October 15 issue of Blood (www.bloodjournal.org).

Although the exact cause of Crohn's disease, a digestive disorder afflicting approximately 500,000 adults in the U.S., remains unknown, scientists agree that it is governed by the immune system and has a genetic component.

"Everyone has bacteria throughout their digestive tract, but in people with Crohn's disease, bacterial products activate inflammation, as well as the immune system, which leads to the debilitating symptoms of Crohn's, including diarrhea, constipation and cramps," said Robert Colman, MD, professor of medicine at TUSM and lead investigator of the study. "Since this reaction doesn't occur in everyone, we suspected that there was a genetic component."

While other researchers have found several genes that indicate an increased susceptibility to Crohn's disease, the Temple study went a step further and explored the role of genetics in causing the inflammation that characterizes the disease.

Specifically, Temple researchers identified a genetic mutation that involves one of the proteins (kininogen) known to be involved in inflammation. In a previous study, Colman demonstrated that a deficiency in this protein led to a much milder form of inflammation.

"Finding this mutation is important because we are now in a position to look for the same genetic mutations in humans, the presence of which would confirm that the protein kininogen plays an important role in the origin and development of Crohn's. We could then direct therapy toward modifying the effects of this protein," said Colman.

Temple researchers collaborated with the Center for Gastrointestinal Biology and Disease, University of North Carolina School of Medicine, Chapel Hill. The study was supported by funding from the National Institutes of Health and the Crohn's and Colitis Foundation.


Story Source:

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


Cite This Page:

Temple University. "Gene Mutation Responsible For Crohn's Disease Inflammation Identified In Temple Study." ScienceDaily. ScienceDaily, 16 October 2003. <www.sciencedaily.com/releases/2003/10/031016063335.htm>.
Temple University. (2003, October 16). Gene Mutation Responsible For Crohn's Disease Inflammation Identified In Temple Study. ScienceDaily. Retrieved April 18, 2014 from www.sciencedaily.com/releases/2003/10/031016063335.htm
Temple University. "Gene Mutation Responsible For Crohn's Disease Inflammation Identified In Temple Study." ScienceDaily. www.sciencedaily.com/releases/2003/10/031016063335.htm (accessed April 18, 2014).

Share This



More Health & Medicine News

Friday, April 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com
Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) Video provided by AP
Powered by NewsLook.com
Is Apathy A Sign Of A Shrinking Brain?

Is Apathy A Sign Of A Shrinking Brain?

Newsy (Apr. 17, 2014) A recent study links apathetic feelings to a smaller brain. Researchers say the results indicate a need for apathy screening for at-risk seniors. Video provided by Newsy
Powered by NewsLook.com
Could Even Casual Marijuana Use Alter Your Brain?

Could Even Casual Marijuana Use Alter Your Brain?

Newsy (Apr. 16, 2014) A new study conducted by researchers at Northwestern and Harvard suggests even casual marijuana use can alter your brain. 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