CYSTIC FIBROSIS

Mutations in the CFTR gene cause cystic fibrosis. CFTR stands for " cystic

fibrosis transmembrane conductance regulator". The CFTR gene provides

instructions for making a channel that transports negatively charged

particles called chloride ions in and out of cells. Chloride also has

important functions in cells. Transformation in the CFTR gene disrupts

the function of the chloride cells, preventing them from controlling the

flow of chloride particales and water across cell membranes. As a result of

this, cells that line the passageways of the lungs, pancreas, and other

organs produce mucus that is unusually thick and sticky. This mucus

clogs the airways, causing the exact signs and symptoms of cystic fibrosis.