Diarrhea is an awful, uncomfortable circumstance to think about. Let's just get that out in the open. But researchers in Norway believe they've found a gene mutation that may cause chronic diarrhea in certain situations, a first step toward more effectively treating, and someday curing such a condition.
Doubtful? Don't be, because the finding could affect a variety of GI conditions. Scientists at Haukeland University Hospital in Bergen, Norway believe that mutations in the gene, GUCY2C, could also be a factor in a number of gastroenterological conditions such as Crohn's disease or irritable bowel syndrome.
The usual fact applies here: Much more research is needed to bear out the Norway scientists' finding. But if the connection holds, it could offer a great hope to folks with intestinal problems. Diet and drugs can treat the symptoms, but both options are imperfect at best and don't often solve the underlying gastrointestinal conditions themselves. But the research could eventually lead to a drug that can treat the genetic defect--correct it, even--and solve the problem.
MedPage Today offers a solid summary of the study, which is published in the New England Journal of Medicine (NEJM).
Basically, 32 people from a Norwegian family who suffer from chronic diarrhea took part. All had chronic diarrhea problems at birth that later moderated, and subsequently had a higher likelihood of problems including esophagitis and small-bowel obstruction, according to the article. Whole genome sequencing helped scientists realize all of the affected family members were faced with a mutant receptor in the GUYC2C gene.
After using common bacteria like E. coli (enterotoxins), the team watched the mutant receptor set a number of things in motion, including secretion of chloride and water into the intestine, which they believe could be the basis for chronic diarrhea these patients have had. Even more interesting: they believe the mutated gene may affect both gut inflammation and motility.
- read the MedPage Today story
- check out the NEJM study article