Researchers find genetic clue to irritable bowel syndrome

Is irritable bowel syndrome (IBS) caused by genetics, diet, past trauma, anxiety? All are thought to play a role, but now, for the first time, researchers have reported a defined genetic defect that causes a subset of IBS. The research was published in the journal Gastroenterology.

Researchers estimate that approximately 15 to 20 percent of the Western world has IBS. It is a common disorder that affects the large intestine. Most patients with the disorder commonly experience symptoms of cramping, abdominal pain, bloating gas, diarrhea and . Most treatments for IBS target these symptoms.

Researchers found that patients with a subset of IBS have a specific , a mutation of the SCN5A gene. This defect causes patients to have a disruption in bowel function, by affecting the Nav1.5 channel, a sodium channel in the gastrointestinal smooth muscle and pacemaker cells.

The research is in early stages, but the results of this study give researchers hope of finding therapies for these patients.

"This gives us hope that from only treating symptoms of the disease, we can now work to find disease-modifying agents, which is where we really want to be to affect long-term treatment of IBS," says Gianrico Farrugia, M.D., a study author, Mayo Clinic gastroenterologist and director of the Mayo Clinic Center for Individualized Medicine.

Researchers studied the sodium channel of 584 people with IBS and 1,380 control subjects. The analysis demonstrated that a defect in the SCN5A gene was found in 2.2 percent of IBS patients. The results were confirmed in a genome-wide association study and replicated in 1,745 patients in four independent cohorts of with IBS and control subjects.

Additionally, researchers were able to restore function to a patient with constipation predominant IBS with a defective SCN5A gene and resulting abnormally functioning . Researchers used a drug called mexiletine, which restored the function of the channel and reversed the patient's symptoms of constipation and .

This study also included researchers from the Karolinska Institutet in Stockholm, and others in Italy and Greece.

add to favorites email to friend print save as pdf

Related Stories

New drug to help common bowel disease

Oct 29, 2013

(Medical Xpress)—An international team led by University of Adelaide researchers has identified the mechanism of pain relief of a new drug for treating Irritable Bowel Syndrome with Constipation (IBS-C), based on nonclinical ...

New IBS treatment shows potential in Phase 2 study

Aug 12, 2013

Patients with diarrhea-predominant irritable bowel syndrome, or IBS-D, treated with eluxadoline achieved better clinical response and experienced more symptom improvement than those using placebo, according to a recent study ...

Recommended for you

Africa's uneven health care becomes easy prey for Ebola

4 hours ago

Threatened by the possible spread of an Ebola epidemic which respects no borders, Africa is divided between a handful of countries equipped to withstand an outbreak and many more which would be devastated, experts say.

Ebola case stokes concerns for Liberians in Texas

5 hours ago

The first case of Ebola diagnosed in the U.S. has been confirmed in a man who recently traveled from Liberia to Dallas, sending chills through the area's West African community whose leaders urged caution ...

Is Australia prepared for Ebola?

8 hours ago

Australia needs to be proactive about potential disease outbreaks like Ebola and establish a national centre for disease control.

Dallas hospital confirms first Ebola case in US

14 hours ago

A patient at a Dallas hospital has tested positive for Ebola, the first case of the disease to be diagnosed in the United States, federal health officials announced Tuesday.

User comments