Featured Research

from universities, journals, and other organizations

Genetic clue to irritable bowel syndrome found

Date:
March 20, 2014
Source:
Mayo Clinic
Summary:
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. 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 constipation.

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.

Related Articles


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 constipation. Most treatments for IBS target these symptoms.

Researchers found that patients with a subset of IBS have a specific genetic defect, 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 patients 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 sodium channel. Researchers used a drug called mexiletine, which restored the function of the channel and reversed the patient's symptoms of constipation and abdominal pain.


Story Source:

The above story is based on materials provided by Mayo Clinic. Note: Materials may be edited for content and length.


Journal Reference:

  1. Arthur Beyder, Amelia Mazzone, Peter R. Strege, David J. Tester, Yuri A. Saito, Cheryl E. Bernard, Felicity T. Enders, Weronica E. Ek, Peter T. Schmidt, Aldona Dlugosz, Greger Lindberg, Pontus Karling, Bodil Ohlsson, Maria Gazouli, Gerardo Nardone, Rosario Cuomo, Paolo Usai-Satta, Francesca Galeazzi, Matteo Neri, Piero Portincasa, Massimo Bellini, Giovanni Barbara, Michael Camilleri, G. Richard Locke, Nicholas J. Talley, Mauro D’Amato, Michael J. Ackerman, Gianrico Farrugia. Loss-of-function of the Voltage-gated Sodium Channel NaV1.5 (Channelopathies) in Patients with Irritable Bowel Syndrome. Gastroenterology, 2014; DOI: 10.1053/j.gastro.2014.02.054

Cite This Page:

Mayo Clinic. "Genetic clue to irritable bowel syndrome found." ScienceDaily. ScienceDaily, 20 March 2014. <www.sciencedaily.com/releases/2014/03/140320173158.htm>.
Mayo Clinic. (2014, March 20). Genetic clue to irritable bowel syndrome found. ScienceDaily. Retrieved October 25, 2014 from www.sciencedaily.com/releases/2014/03/140320173158.htm
Mayo Clinic. "Genetic clue to irritable bowel syndrome found." ScienceDaily. www.sciencedaily.com/releases/2014/03/140320173158.htm (accessed October 25, 2014).

Share This



More Health & Medicine News

Saturday, October 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

IKEA Desk Converts From Standing to Sitting With One Button

IKEA Desk Converts From Standing to Sitting With One Button

Buzz60 (Oct. 24, 2014) IKEA is out with a new convertible desk that can convert from a sitting desk to a standing one with just the push of a button. Jen Markham explains. Video provided by Buzz60
Powered by NewsLook.com
Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) Video provided by AP
Powered by NewsLook.com
Doctor in NYC Quarantined With Ebola

Doctor in NYC Quarantined With Ebola

AP (Oct. 24, 2014) An emergency room doctor who recently returned to the city after treating Ebola patients in West Africa has tested positive for the virus. He's quarantined in a hospital. (Oct. 24) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins