Hoffenberg’s research findings featured in journal

CU School of Medicine’s Ed Hoffenberg, M.D., Pediatrics and Digestive Health Institute of Children’s Hospital Colorado, has collaborated with a group of international investigators to identify a gene as the cause for congenital short bowel syndrome. The research findings are in the March issue of the journal, Gastroenterology; 142: 453-462, 2012.

This rare disorder causes infants to be born with an extremely shortened small intestine, about a quarter of the normal length. This shortened intestine greatly limits their ability to absorb nutrients and water. These babies have life-threatening diarrhea and nutritional deficiencies.

Individuals may also develop acquired short bowel syndrome due to prematurity, infections, trauma or multiple surgeries in which large portions of the bowel are removed. These individuals have problems similar to those with congenital short bowel syndrome. A way to enhance the small bowel to recover by growing longer has long been an elusive goal in treating these patients.

In this study, five families with seven children, including one from Colorado, were studied.  All were found to have alterations in a gene called CLMP. This gene is responsible for a protein that is widely expressed in many tissues during development and is important in cell-cell adhesion and possibly in cell proliferation. A zebrafish model, in which the zebrafish CLMP expression is altered, produced offspring with a shortened intestine confirming the likelihood that this gene causes congenital short bowel syndrome.

This finding provides a model to study intestinal growth. Importantly, it may provide a direction to develop new therapies to promote intestinal growth and lengthening, which have the potential to be helpful in treating infants with congenital short bowel syndrome and children or adults with acquired short bowel syndrome.