A new study by researchers at Hasbro Children's Hospital, the pediatric division of Rhode Island Hospital, and Mount Sinai Hospital, New York, offers new insight into the role that the cystic fibrosis gene plays in the development of gastrointestinal disease.
The cystic fibrosis transmembrane conductance regulator (CFTR) gene codes for a protein also known as CFTR. Mutations of this protein are associated with cystic fibrosis (CF) and a range of digestive diseases, such as inflammation of the pancreas, that can be severe and debilitating and can occur even in patients without CF. Yet the underlying mechanism by which CFTR gene dysfunction causes disease is poorly understood, limiting potential treatment options.
In the December 15th issue of the Biochemical Journal, scientists report the discovery of a new regulatory element in a region of the CFTR gene that can control the gene's expression in the gastrointestinal tract. They also identified three important and active regulatory factors at this site that are known to control major aspects of intestinal cell regulation, including cell differentiation and growth.
“We hope that these findings will lead to a more comprehensive understanding of how CFTR gene dysfunction can cause such a wide range of disease, eventually enabling us to develop effective treatments for cystic fibrosis and other gastrointestinal diseases,” said lead author Thankam Paul, M.D., a pediatric gastroenterologist at Hasbro Children's Hospital and assistant professor of pediatrics at The Warren Alpert Medical School of Brown University.
The CFTR protein resides in the surface of cells lining the digestive system, lungs and sweat glands. In normal cells, it acts as an ion channel that transports chloride into and out of cells. It also controls the regulation of other transport pathways regulating the passage of fluid and bicarbonate across cell membranes.