Navigation Links
Genetic mutation found in familial chronic diarrhea syndrome
Date:3/21/2012

HUNTSVILLE, Ala. -- When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic components such as irritable bowel syndrome. Researchers in Norway, India, and at the HudsonAlpha Institute for Biotechnology have identified one heritable DNA mutation that leads to chronic diarrhea and bowel inflammation.

Shawn Levy, Ph.D., faculty investigator at HudsonAlpha said, "Based on the effects seen from this one mutation, we are hopeful that the work will aid in understanding of much more common diseases like Crohn's and irritable bowel syndrome, which also have inflammation and diarrhea as symptoms."

The Norwegian family studied for the paper published today in The New England Journal of Medicine has 32 living members with a number of related inflammatory bowel conditions. Such a large family allowed scientists in Norway to use traditional genetic linkage methods to narrow down the potential DNA mutation to one portion of chromosome 12, and then to a specific gene called GUCY2C.

The Norway group asked Levy and his group at HudsonAlpha to confirm initial findings on this mutation as well as determine if there were other mutations that could contribute to the disorder. "Our exome sequencing was able to rule out other mutations and demonstrate that the one change in the GUCY2C gene was common to the disease," commented Levy.

The protein made from the GUCY2C gene is involved in transmitting specific chemical signals from food consumed to the cells inside our bowels. But the family members with chronic diarrhea have a mutation that makes the protein constantly "on," or transmitting much more signal than it should. Based on this new understanding, the scientists are now evaluating possible drug treatments based on the function of the affected protein. They can also recommend that GUCY2C be reexamined in more common bowel inflammation syndromes, as it may contribute to pathology for thousands of people worldwide.


'/>"/>

Contact: Chris Gunter or Holly Ralston
cgunter@hudsonalpha.org
256-327-0400
HudsonAlpha Institute for Biotechnology
Source:Eurekalert

Related biology news :

1. Rare genetic disorder gives clues to autism, epilepsy, mental retardation
2. Genetic Engineering & Biotechnology News reports on growing role of molecular diagnostics
3. Study finds genetic variant plays role in cleft lip
4. Genetic finding implicates innate immune system in major cause of blindness
5. American College of Medical Genetics receives $13.5M NIH contract
6. Clue to genetic cause of fatal birth defect
7. Can genetic information be controlled by light?
8. The American Society of Human Genetics hosts 58th Annual Meeting in Philadelphia
9. Modern genetics vs. ancient frog-killing fungus
10. Genetic based human diseases are an ancient evolutionary legacy
11. Genetic evidence for avian influenza movement from Asia to North America via wild birds
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/14/2017)... 15, 2017  IBM (NYSE: IBM ) is introducing several ... dedicated to developing collaboration between startups and global businesses, taking ... During the event, nine startups will showcase the solutions they ... industries. France is ... with a 30 percent increase in the number of startups ...
(Date:5/6/2017)... RAM Group , Singaporean based ... in biometric authentication based on a novel  ... to perform biometric authentication. These new sensors are based on ... Ram Group and its partners. This sensor will have ... and security. Ram Group is a next generation ...
(Date:4/17/2017)... NXT-ID, Inc. (NASDAQ: NXTD ) ("NXT-ID" or the "Company"), ... Report on Form 10-K on Thursday April 13, 2017 with the ... The ... section of the Company,s website at http://www.nxt-id.com  under "SEC Filings," ... 2016 Year Highlights: Acquisition of ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... AMRI, a ... biotechnology industries to improve patient outcomes and quality of life, will now be ... are being attributed to new regulatory requirements for all new drug products, including ...
(Date:10/11/2017)... ... October 11, 2017 , ... ... in its endogenous context, enabling overexpression experiments and avoiding the use of exogenous ... RNA guides is transformative for performing systematic gain-of-function studies. , This complement ...
(Date:10/11/2017)... BALTIMORE, Md. (PRWEB) , ... October 11, 2017 ... ... for digital pathology, announced today it will be hosting a Webinar titled, “Pathology ... of  Advanced Pathology Associates , on digital pathology adoption best practices and how ...
(Date:10/11/2017)... Tbilisi, Georgia (PRWEB) , ... October 11, 2017 , ... ... disaster, taking the lives of over 5.5 million people each year. Especially those living ... the greenovative startup Treepex - based in one of the most pollution-affected countries globally ...
Breaking Biology Technology: