Not every case of cystic fibrosis is the same. A person’s mutation determines what goes wrong on a cellular level, and which therapies may work to correct it.
The CF gene makes a protein called the Cystic Fibrosis Transmembrane conductance Regulator (CFTR). The protein is a chloride channel. Chloride, a charged particle in cells, flows out of the cell through the center of the channel and water follows behind it. The water keeps mucus thin so it can move out of the lungs.
In healthy people, CFTR is located on the surface of cells lining the lungs and other organs. People with CF have little or no CFTR, depending on what class their mutation falls into.
There are currently 1,937 Cystic Fibrosis mutations listed in the Cystic Fibrosis Mutation Database and and new ones being added all the time. Cystic Fibrosis mutations fall six basic classes or categories.