Vet Pathology Wiki

Choose the correct answer

Cystic fibrosis is caused by what mutation?

A single mutation in chaparone proteins within the ER resulting in misfolding of proteins, ER retention and subsequent catabolism

A single mutation in the CFTR protein resulting in the absence of Phe508 and subsequent protein misfolding. The protein is catabolized in the ER and therefore not expressed on the cell surface

A single mutation in the CHP chaparone protein resulting in the absence of Phe508 and subsequent protein misfolding. The protein is catabolized in the ER and results in misfolding of other proteins destined for the plasma membrane

A single mutation in the CFTR protein resulting in the absence of Phe508 and subsequent protein misfolding. The defective protein is expressed on the plasma membrane

”Explanation”

RC 10th Ed. p 13