Cystic fibrosis (CF) is the most common genetically inherited disease amongst Caucasian populations. It is said that 1 in 25 individuals carry one copy of the affected gene, and 1 in ~3000 newborns is affected by CF. The disease disrupts many organ functions, especially lungs, where chronic bacterial infections often lead to respiratory failure and death. CF patients may also suffer from the inability to properly digest food due to the lack of digestive enzymes, as well as experiencing intestinal blockages.
There was a breakthrough in the CF research back in 1989, when the gene responsible for the disease was finally identified. The gene encodes an ion channel named cystic fibrosis transmembrane conductance regulator (CFTR). A channel is a protein in the membrane of a cell that can pass select ions from one side of the membrane to the other. CFTR allows the passage of chloride ions from inside the epithelial cell to the surface of the cell that lines the ducts and tubes in the body, such as airways. This step is important in the production of mucus, digestive enzymes, and sweat. The presence of chloride ions makes the mucus that coats the surface of the ducts and tubes thin and fluid. Since its discovery, more than 1,800 mutations have been found in CFTR that cause CF. Continue reading –>