Cystic Fibrosis (CF) affects about 30,000 people in the United States and approximately 70,000 people worldwide. Since the identification of the Cystic Fibrosis gene in 1989, researchers have known that CF results from mutations in the gene for the protein cystic fibrosis trans-membrane conductance regulator (CFTR). Without functioning CFTR, which is an epithelial ion channel, patients have flawed regulation of salt and water absorption and secretion in the lung, liver, pancreas, intestine and reproductive tract. The majority of people with CF in the United States have a specific CFTR mutation, but there are over 1,500 mutations that can cause this multi-system disease, by affecting either the quantity or the quality of CFTR. Approximately 3-5% of patients with Cystic Fibrosis have a missense mutation, G551D, which causes the CFTR protein at the cell surface not to open and close properly.

The question, then: is it possible to change the function of this protein channel itself? In a new report appearing in the FASEB Journal, the researchers describe how they used HT screening to identify small-molecule drug candidates which are able to correct the defects in cystic fibrosis cells, making the cystic fibrosis cell look more like the normal cell.

Related link: List of CFTR inhibitors, Correctors and Potentiators