The key defect in cystic fibrosis is the loss of the chloride conductance, but mutation of the cystic fibrosis gene, the CFTR has many effects on cell physiology
Loss of conductance through the chloride channel reduces fluid secretion leads to
The loss of the epithelial chloride conductance and some of the symptoms of cystic fibrosis can be explained by...
airway obstruction by condensed macromolecules; salt absorption is also compromised in some tissues
How does loss of CFTR cause cystic fibrosis??
The CFTR may transport ATP and bicarbonate ions, CFTR can also affect other membrane molecules> could trigger complex downstream events.
This leads to cells that line the passages of lungs and other organs to produce mucus that is unusually thick .
Meaning- mutations in the CFTR gene disrupt the function of chloride channels. Prevents them from regulating the flow of chloride ions and water across the cell membrane.
Also studies of cystic fibrosis by gene targeting along with genotype/phenotype analysis of cystic fibrosis patients> evidence that the loss of the CFTR is primarily responsible for cystic fibrosis disease!