Providing new options for treatment

Researchers at Haukeland University Hospital and the University of Bergen have discovered a previously unknown gene defect in people with chronic diarrhoea.

Torunn Fiskerstrand og Per Knappskog har forska på kronisk diare og Crohn's...
Torunn Fiskerstrand og Per Knappskog har forska på kronisk diare og Crohn's sjukdom
Øyvind Blom

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The discoveries by the Bergen-based researchers can have implications for the treatment of Crohn´s disease and irritable bowel syndrome (IBS), diseases that affect as many as 20 per cent of the population.

– Chronic diarrhoea is a frequent condition in the population, but until now we had little knowledge of the various types of this disease group. Through our work we have been able to identify a gene named GUCY2C. We now know that this gene causes a hereditary type of diarrhoea that resembles IBS. This new understanding gives us new options for treatment, Associate Professor Torunn Fiskerstrand says.

Fiskerstrand works at the section for medical genetics and molecular medicine (MGM) at UiB´s Department of Clinical Medicine. Fiskerstrand and a group of local researchers in Bergen have been working closely with colleagues in India to reach these sensational results. The results were presented in the prestigious the New England Journal of Medicine on 21 March 2012.

– We are very proud to be the first to identify and describe this genetic disorder and the consequences of this. This is the biggest and best we have done, and I would like to thank all who have contributed to this research, Adjunct Professor and head of research and development at MGM Per Knappskog says.

Hereditary diarrhoea

The international research collaboration used a Norwegian family suffering from a hereditary type of chronic diarrhoea as its starting point. The condition results in an increased risk for volvulus. This family is also at increased risk of Crohn´s disease, which is an inflammatory disease of the intestine. No one has so far been able to identify the causes of the family´s condition.

After numerous hours of laboratory work, researchers were able to identify not only the gene defect but also the molecular mechanisms of the disease.

– Functional bowel disorder, such as IBS, is often attributed to stress and psychological mechanisms. But our findings indicate that genetics and biology may be of greater significance than previously thought, Fiskerstrand says.

«Holiday tummy»

– In short, one may say that this family lives with constant «holiday tummy». This is because the gene defect leads to increased activity of the same receptor in the gut that is activated when we consume E.coli bacteria. Once we located the gene defect, we noticed that the mutant gene led to increased secretion into the intestine.

– The result of this is the chronic diarrhoea that afflicts this family. We were surprised that this in due cause can lead to other conditions, such as chronic inflammation of the small intestine, and provides us with new approaches to research on Crohn´s disease amongst other, Fiskerstrand points out.

Not for the first time

This is not the first time that researchers from MGM are at the forefront of ground breaking gene research. Over the years the group has built a reputation for high competence in the search for diseased genes in hereditary medical disorders. GUCY2C is the sixth such disease gene that the group has been able to detect through its work.


This article was originally published in Norwegian on the home page of Helse Bergen. Translated from the Norwegian by Sverre Ole Drønen.