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:4/5/2017)... 2017  The Allen Institute for Cell Science today ... one-of-a-kind portal and dynamic digital window into the human ... first application of deep learning to create predictive models ... and a growing suite of powerful tools. The Allen ... future publicly available resources created and shared by the ...
(Date:4/4/2017)... YORK , April 4, 2017   EyeLock ... today announced that the United States Patent and Trademark ... patent broadly covers the linking of an iris image ... same transaction) and represents the company,s 45 th ... latest patent is very timely given the multi-modal biometric ...
(Date:3/30/2017)... HONG KONG , March 30, 2017 ... developed a system for three-dimensional (3D) fingerprint identification by adopting ground ... technology into a new realm of speed and accuracy for use ... applications at an affordable cost. ... ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... SANTA CRUZ, Calif. , Oct. 10, 2017 /PRNewswire/ ... SBIR grant from the NIH to develop RealSeq®-SC (Single ... preparation kit for profiling small RNAs (including microRNAs) from ... Cell Analysis Program highlights the need to accelerate development ... "New techniques for ...
(Date:10/9/2017)... , Oct. 9, 2017  BioTech Holdings ... mechanism by which its ProCell stem cell therapy ... limb ischemia.  The Company, demonstrated that treatment with ... of limbs saved as compared to standard bone ... molecule HGF resulted in reduction of therapeutic effect.  ...
(Date:10/9/2017)... (PRWEB) , ... October 09, 2017 , ... ... a four-tiered line of medical marijuana products targeting the needs of consumers who ... packaging of Kindred takes place in Phoenix, Arizona. , As operators of two ...
(Date:10/7/2017)... (PRWEB) , ... October 06, ... ... leader in Hi-C-based genomic technologies, launched its ProxiMeta™ Hi-C metagenome deconvolution product, ... Hi-C kit and accompanying cloud-based bioinformatics software to perform Hi-C metagenome deconvolution ...
Breaking Biology Technology: