Altered protein folding may be the molecular basis of most cases of cystic fibrosis

摘要: Experiments have demonstrated that the cystic fibrosis transmembrane conductance regulator protein (CFTR), containing most common (CF)-causing mutation (ΔF508), reaches plasma membrane in reduced amounts. Studies of a peptide model CFTR indicate ΔF508 mutated region is more sensitive to denaturating conditions. This paper proposes altered folding accounts for these findings, and, thus, cases CF. Significantly, hypothesis makes specific predictions about effect stabilizing conditions on mutant CFTR, further, suggests new class pharmaceuticals may prove effective treatment this important genetic disease.