How Does the Delta F508 Mutation Affect the CFTR Protein?
The CFTR protein is essential for regulating the movement of chloride and sodium ions across cell membranes. The Delta F508 mutation causes the CFTR protein to misfold, preventing it from reaching the cell membrane where it is needed. As a result, chloride ions cannot be properly transported, leading to the thick, sticky mucus characteristic of CF, which affects the respiratory, digestive, and reproductive systems.
