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  • Ostedgaard, Lynda S; Meyerholz, David K; Chen, Jeng-Haur; Pezzulo, Alejandro A; Karp, Philip H; Rokhlina, Tatiana; Ernst, Sarah E; Hanfland, Robert A; Reznikov, Leah R; Ludwig, Paula S; Rogan, Mark P; Davis, Greg J; Dohrn, Cassie L; Wohlford-Lenane, Christine; Taft, Peter J; Rector, Michael V; Hornick, Emma; Nassar, Boulos S; Samuel, Melissa; Zhang, Yuping; Richter, Sandra S; Uc, Aliye; Shilyansky, Joel; Prather, Randall S; McCray, Jr, Paul B; Zabner, Joseph; Welsh, Michael J; Stoltz, David A

    Science translational medicine, 2011-Mar-16, Letnik: 3, Številka: 74
    Journal Article

    Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel. The most common CF-associated mutation is ΔF508, which deletes a phenylalanine in position 508. In vitro studies indicate that the resultant protein, CFTR-ΔF508, is misprocessed, although the in vivo consequences of this mutation remain uncertain. To better understand the effects of the ΔF508 mutation in vivo, we produced CFTR(ΔF508/ΔF508) pigs. Our biochemical, immunocytochemical, and electrophysiological data on CFTR-ΔF508 in newborn pigs paralleled in vitro predictions. They also indicated that CFTR(ΔF508/ΔF508) airway epithelia retain a small residual CFTR conductance, with maximal stimulation producing ~6% of wild-type function. Cyclic adenosine 3',5'-monophosphate (cAMP) agonists were less potent at stimulating current in CFTR(Δ)(F508/)(Δ)(F508) epithelia, suggesting that quantitative tests of maximal anion current may overestimate transport under physiological conditions. Despite residual CFTR function, four older CFTR(ΔF508/ΔF508) pigs developed lung disease similar to human CF. These results suggest that this limited CFTR activity is insufficient to prevent lung or gastrointestinal disease in CF pigs. These data also suggest that studies of recombinant CFTR-ΔF508 misprocessing predict in vivo behavior, which validates its use in biochemical and drug discovery experiments. These findings help elucidate the molecular pathogenesis of the common CF mutation and will guide strategies for developing new therapeutics.