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:1/4/2017)... thousands of attendees at this year,s International Consumer Electronics Show (CES), ... devices and services, will be featuring its new line of ULTRA CONNECT ... special CES Exhibit Suite , the new upper arm and wrist smart ... product platform.  Continue Reading ... ...
(Date:12/22/2016)... Dec. 20, 2016  As part of its longstanding mission ... personal genetics company, recently released its latest children,s book, titled ... book focuses on the topics of inheritance and variation of ... (NGSS) taught in elementary school classrooms in the US. ... by illustrator Ariana Killoran , whose previous book with ...
(Date:12/20/2016)... and GENEVA, Dec, 20, 2016   Valencell ... sensor technology, and STMicroelectronics (NYSE: STM), a ... of electronics applications, announced today the launch of ... for biometric wearables that includes ST,s compact ... Valencell,s Benchmark™ biometric sensor system. Together, SensorTile ...
Breaking Biology News(10 mins):
(Date:1/11/2017)... (PRWEB) , ... January 11, 2017 , ... ... international society for optics and photonics , are commending the U.S. Congress and ... the signing Friday by the President of the American Innovation and Competitiveness Act ...
(Date:1/11/2017)... ... 11, 2017 , ... Microbial genomics leader uBiome, is awarding ... recent microbiome impact grant award has been made to Dr. Eon Rios of ... of oral antibiotics, prescribed for skin conditions, on the gut microbiome. , ...
(Date:1/11/2017)... , ... January 11, 2017 , ... Back pain relief ... No Shots and No Surgery for positive back pain relief for WAR members. , ... results worldwide and could be life changing for millions suffering from chronic back pain. ...
(Date:1/11/2017)... 2017  GenVec, Inc. (NASDAQ: GNVC ... that its chief scientific officer, Douglas E. ... platform for translational development of innovative gene and ... upcoming Phacilitate Cell & Gene Therapy World 2017 ... Dr. Brough,s presentation will highlight the utility of ...
Breaking Biology Technology: