Genetic mutation found in familial chronic diarrhea syndrome

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 , which also have inflammation and diarrhea as symptoms."

The Norwegian family studied for the paper published today in The has 32 living members with a number of related inflammatory bowel conditions. Such a large family allowed scientists in Norway to use traditional methods to narrow down the potential 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 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.

More information: The article "Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation," by Fiskerstrand et al. can be found at the website www.nejm.org .

Provided by HudsonAlpha Institute for Biotechnology

not rated yet
add to favorites email to friend print save as pdf

Related Stories

Irritable bowel syndrome can have genetic causes

Dec 10, 2008

Irritations of the bowel can have genetic causes. Researchers at the Institute of Human Genetics at Heidelberg University Hospital have discovered this correlation. The causes of what is known as irritable bowel syndrome ...

Rare gene variants linked to inflammatory bowel disease

Oct 10, 2011

(Medical Xpress) -- An international team of scientists, including researchers from Karolinska Institutet, have identified several rare gene variants that predispose to IBD (Inflammatory Bowel Disease). The study provides ...

Recommended for you

Right environment could improve stem cell therapies

Oct 23, 2014

Stem cell therapies are being hailed as a potential cure for many major health conditions, but there is much still to learn about the highly complex environments needed to optimise these therapies, according to researchers ...

User comments