Around 20 percent of the United States suffers from irritable bowel syndrome (IBS), a disorder that causes several uncomfortable symptoms centered on the large intestine. As of yet, there is no treatment for IBS itself, just methods to alleviate the symptoms. However, new and conclusive evidence from the Mayo Clinic in Rochester, Minnesota points to a gene responsible for IBS in some patients.
Physicians and researchers have long theorized about the origins of IBS. It has been thought that diet, lifestyle, and stress all contribute to the onset of the disorder, but it has been difficult to directly prove this or determine exactly what it takes to avoid IBS. A study at Mayo Clinic was thus launched in order to see what role genetics played, if any.
The study found that the mutation of a particular gene, SCN5A, was both a necessary and sufficient condition for contracting a subset of IBS. That is, every patient with the mutation of SCN5A has this subset of IBS, and every patient with this subset of IBS has the mutated gene. This was very promising news to study author Gianrico Farrugia, M.D. (pictured left, courtesy Mayo Clinic) because it provided an opening to treat the disease rather than simply the symptoms.
“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,” Farrugia adds in a recent Mayo Clinic press release. Tracing the problem to its genetic roots allowed Farrugia to identify the biological anomaly, in this case a defective sodium channel. In a test case, treatment with a drug called mexiletine got the sodium channel working normally and cleared up the patient’s symptoms. Further research will tell whether this is an appropriate response to all patients with this subset of IBS, and hopefully whether there are other genes involved in other subsets of the disorder.
(Image courtesy Wikimedia Commons and Christo and Melissa Phillips)
The pioneering approach of the doctors and researchers at Mayo Clinic regularly draws attention, patients, and funding for the clinic. For some further reading on research and funding at Mayo Clinic, please click the button below:
If you are a science researcher or lab supplier interested in networking with research professionals in the Rochester area, plan to attend Biotechnology Calendar, Inc.'s Rochester BioResearch Product Faire™ event, which will be held on May 22, 2014. You can reserve a space early by clicking this button:
Biotechnology Calendar, Inc. is a full-service event marketing and planning company producing on-campus life science research tradeshows nationwide for 21 years. We plan and promote each event to bring the best products and services to the best research campuses across the country. Life science researchers, purchasing agents, and lab managers are invited to attend to see the latest products and equipment and discuss their laboratory tool and service needs. See our Nationwide Show Schedule for 2014 if our shows sound like a good fit for you.