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Cystic fibrosis occurs when there is a mutation in the CFTR gene. The protein created by this gene is anchored to the outer membrane of cells in the sweat glands, lung, pancreas, and other affected organs. The protein spans this membrane and acts as a channel connecting the inner part of the cell to the surrounding fluid. This channel is primarily responsible for controlling the movement of chloride ions across the membrane. When the CFTR protein does not work, chloride is trapped outside the cell. Because chloride is negatively charged, positively charged ion passage is also affected.
How this malfunction of cells in cystic fibrosis causes the medical manifestations of CF is not well understood...
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