Increased folding and channel activity of a rare cystic fibrosis mutant with CFTR modulators

American Journal of Physiology - Lung Cellular and Molecular Physiology

Volumn 301, Issue 3, 2011, Pages

  Caldwell, Ray A ^a   Grove, Diane E ^b   Houck, Scott A ^b   Cyr, Douglas M ^a,b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

Corrector; Patch clamp; Potentiator

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

AMINO ACID SUBSTITUTION; ARTICLE; CELL STRAIN HEK293; CONDUCTANCE; CYSTIC FIBROSIS; EMBRYO; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MUTATION; PATCH CLAMP; PRIORITY JOURNAL; PROTEIN FOLDING; STIMULATION;

BENZAMIDES; CRESOLS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HEK293 CELLS; HUMANS; PATCH-CLAMP TECHNIQUES; PROTEIN FOLDING; PYRAZOLES; THIAZOLES;

EID: 80052350428     PISSN: 10400605     EISSN: 15221504     Source Type: Journal    
DOI: 10.1152/ajplung.00044.2011     Document Type: Article

References (28)

1. Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, Stone AJ, Olson ER, Ordonez CL, Campbell PW, Ashlock MA, Ramsey BW. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N Engl J Med 363: 1991-2003, 2010.
2. Alonso MJ, Heine-Suner D, Calvo M, Rosell J, Gimenez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet, 71: 194-201, 2007.
3. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations correlation with incidence data and application to screening. Hum Mutat 19: 575-606, 2002.
4. Brown CR, Hong-Brown LQ, Welch WJ. Correcting temperaturesensitive protein folding defects. J Clin Invest 99: 1432-1444, 1997.
5. Caldwell RA, Boucher RC, Stutts MJ. Neutrophil elastase activates near-silent epithelial Na channels and increases airway epithelial Na transport. Am J Physiol Lung Cell Mol Physiol 288: L813-L819, 2005.
6. Dempster J. Computer Analysis of Electrophysiological Signals. New York: Academic, 1993.
7. Du K, Sharma M, Lukacs GL. The F508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR. Nat Struct Mol Biol 12: 17-25, 2005.
8. Gregory RJ, Cheng SH, Rich DP, Marshall J, Paul S, Hehir K, Ostedgaard L, Klinger KW, Welsh MJ, Smith AE. Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature 347: 382-386, 1990.
9. Grove DE, Rosser MF, Ren HY, Naren AP, Cyr DM. Mechanisms for rescue of correctable folding defects in CFTR F508. Mol Biol Cell, 20: 4059-4069, 2009.
10. Helix N, Strobaek D, Dahl BH, Christophersen P. Inhibition of the endogenous volume-regulated anion channel (VRAC) in HEK293 cells by acidic di-aryl-ureas. J Membr Biol 196: 83-94, 2003.
11. Hille B. Ion Channels of Excitable Membranes. Sunderland, MA: Sinauer, 2001.
12. Illsley NP, Verkman AS. Membrane chloride transport measured using a chloride-sensitive fluorescent probe. Biochemistry 26: 1215-1219, 1987.
13. Lukacs GL, Mohamed A, Kartner N, Chang XB, Riordan JR, Grinstein S. Conformational maturation of CFTR but not its mutant counterpart (F508) occurs in the endoplasmic reticulum and requires ATP. EMBO J 13: 6076-6086, 1994.
14. Lundbaek JA, Koeppe RE 2nd, Andersen OS. Amphiphile regulation of ion channel function by changes in the bilayer spring constant. Proc Natl Acad Sci USA 107: 15427-15430, 2010.
15. O'Sullivan BP, Freedman SD. Cystic fibrosis. Lancet 373: 1891-1904, 2009.
16. Pedemonte N, Lukacs GL, Du K, Caci E, Zegarra-Moran O, Galietta LJ, Verkman AS. Small-molecule correctors of defective F508-CFTR cellular processing identified by high-throughput screening. J Clin Invest, 115: 2564-2571, 2005.
17. Rath A, Glibowicka M, Nadeau VG, Chen G, Deber CM. Detergent binding explains anomalous SDS-PAGE migration of membrane proteins. Proc Natl Acad Sci USA,106: 1760-1765, 2009.
18. Riordan JR. CFTR function and prospects for therapy. Annu Rev Biochem 77: 701-726, 2008.
19. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066-1073, 1989. Erratum. Science 245 (Sep): 1437, 1989.
20. Rosser MF, Grove DE, Chen L, Cyr DM. Assembly and misassembly of cystic fibrosis transmembrane conductance regulator: folding defects caused by deletion of F508 occur before and after the calnexin-dependent association of membrane spanning domain (MSD) 1 and MSD2. Mol Biol Cell 19: 4570-4579, 2008.
21. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 352: 1992-2001, 2005.
22. Serohijos AW, Hegedus T, Aleksandrov AA, He L, Cui L, Dokholyan NV, Riordan JR. Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function. Proc Natl Acad Sci USA 105: 3256-3261, 2008.
23. Sloane PA, Rowe SM. Cystic fibrosis transmembrane conductance regulator protein repair as a therapeutic strategy in cystic fibrosis. Curr Opin Pulm Med 16: 591-597, 2010.
24. Therien AG, Grant FE, Deber CM. Interhelical hydrogen bonds in the CFTR membrane domain. Nat Struct Biol 8: 597-601, 2001.
25. Thibodeau PH, Richardson JM 3rd, Wang W, Millen L, Watson J, Mendoza JL, Du K, Fischman S, Senderowitz H, Lukacs GL, Kirk K, Thomas PJ. The cystic fibrosis-causing mutation F508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis. J Biol Chem 285: 35825-35835, 2010.
26. Van Goor F, Straley KS, Cao D, Gonzalez J, Hadida S, Hazlewood A, Joubran J, Knapp T, Makings LR, Miller M, Neuberger T, Olson E, Panchenko V, Rader J, Singh A, Stack JH, Tung R, Grootenhuis PD, Negulescu P. Rescue of F508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules. Am J Physiol Lung Cell Mol Physiol 290: L1117-L1130, 2006.
27. Wang Y, Bartlett MC, Loo TW, Clarke DM. Specific rescue of cystic fibrosis transmembrane conductance regulator processing mutants using pharmacological chaperones. Mol Pharmacol 70: 297-302, 2006.
28. Wang Y, Loo TW, Bartlett MC, Clarke DM. Correctors promote maturation of cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by binding to the protein. J Biol Chem 282: 33247-33251, 2007.