Mutation-specific potency and efficacy of cystic fibrosis transmembrane conductance regulator chloride channel potentiators

Journal of Pharmacology and Experimental Therapeutics

Volumn 330, Issue 3, 2009, Pages 786-791

  Caputo, Antonella ^a   Hinzpeter, Alexandre ^b   Caci, Emanuela ^a   Pedemonte, Nicoletta ^c   Arous, Nicole ^b   Di Duca, Marco ^a   Zegarra Moran, Olga ^a   Fanen, Pascale ^b   Galietta, Luis J V ^a  

^a G GASLINI INSTITUTE   (Italy)

^b HENRI MONDOR HOSPITAL   (France)

^c CENTRO DI BIOTECNOLOGIE AVANZATE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

2 [(2 1H INDOL 3 YL ACETYL)METHYLAMINO] N (4 ISOPROPYLPHENYL) 2 PHENYLACETAMIDE; 6 (ETHYLPHENYLSULFAMOYL) 4 OXO 1,4 DIHYDROQUINOLINE 3 CARBOXYLIC ACID CYCLOHEPTYLAMIDE; CHLORIDE CHANNEL; FELODIPINE; MUTANT PROTEIN; PG 01; PHENYLGLYCINE; SF 01; SULFONAMIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG; 2 PHENYLGLYCINE; 2-PHENYLGLYCINE; CALCIUM CHANNEL BLOCKING AGENT; DRUG DERIVATIVE; GLYCINE;

ALLOSTERISM; ANIMAL CELL; ARTICLE; CHLORIDE CURRENT; CYSTIC FIBROSIS; DRUG BINDING SITE; DRUG EFFICACY; DRUG MECHANISM; DRUG POTENCY; GENE MUTATION; HUMAN; HUMAN CELL; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; ALGORITHM; ANIMAL; BINDING SITE; CELL STRAIN COS1; CERCOPITHECUS; DOSE RESPONSE; DRUG POTENTIATION; GEL MOBILITY SHIFT ASSAY; GENETIC TRANSFECTION; GENETICS; MUTAGENESIS; MUTATION; PHYSIOLOGY; WESTERN BLOTTING;

ALGORITHMS; ANIMALS; BINDING SITES; BLOTTING, WESTERN; CALCIUM CHANNEL BLOCKERS; CERCOPITHECUS AETHIOPS; COS CELLS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DOSE-RESPONSE RELATIONSHIP, DRUG; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FELODIPINE; GLYCINE; MUTAGENESIS; MUTATION; TRANSFECTION;

EID: 70349120419     PISSN: 00223565     EISSN: 15210103     Source Type: Journal    
DOI: 10.1124/jpet.109.154146     Document Type: Article

References (40)

1. Al-Nakkash L, Hu S, Li M, and Hwang TC (2001) A common mechanism for cystic fibrosis transmembrane conductance regulator protein activation by genistein and benzimidazolone analogs. J Pharmacol Exp Ther 296:464-472. (Pubitemid 32112474)
2. Bompadre SG, Sohma Y, Li M, and Hwang TC (2007) G551D and G1349D, two CF-associated mutations in the signature sequences of CFTR, exhibit distinct gating defects. J Gen Physiol 129:285-298. (Pubitemid 46506980)
3. Bulteau L, Dérand R, Mettey Y, Métayé T, Morris MR, McNeilly CM, Folli C, Galietta LJ, Zegarra-Moran O, Pereira MM, et al. (2000) Properties of CFTR activated by the xanthine derivative X-33 in human airway Calu-3 cells. Am J Physiol Cell Physiol 279:C1925-C1937.
4. inh-172 based on Arg347 mutagenesis. Biochem J 413:135-142.
5. Cai Z and Sheppard DN (2002) Phloxine B interacts with the cystic fibrosis transmembrane conductance regulator at multiple sites to modulate channel activity. J Biol Chem 277:19546-19553. (Pubitemid 34967467)
6. Dalemans W, Barbry P, Champigny G, Jallat S, Dott K, Dreyer D, Crystal RG, Pavirani A, Lecocq JP, and Lazdunski M (1991) Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation. Nature 354:526-528. (Pubitemid 21896832)
7. Dawson DC, Smith SS, and Mansoura MK (1999) CFTR: mechanism of anion conduction. Physiol Rev 79:S47-S75.
8. Denning GM, Anderson MP, Amara JF, Marshall J, Smith AE, and Welsh MJ (1992) Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 358:761-764.
9. Galietta LJ and Moran O (2004) Identification of CFTR activators and inhibitors: chance or design? Curr Opin Pharmacol 4:497-503.
10. Galietta LJ, Haggie PM, and Verkman AS (2001a) Green fluorescent protein-based halide indicators with improved chloride and iodide affinities. FEBS Lett 499:220-224.
11. Galietta LJ, Springsteel MF, Eda M, Niedzinski EJ, By K, Haddadin MJ, Kurth MJ, Nantz MH, and Verkman AS (2001b) Novel CFTR chloride channel activators identified by screening of combinatorial libraries based on flavone and benzoquinolizinium lead compounds. J Biol Chem 276:19723-19728. (Pubitemid 37411030)
12. Gottesman MM and Ambudkar SV (2001) Overview: ABC transporters and human disease. J Bioenerg Biomembr 33:453-458.
13. Gregory RJ, Rich DP, Cheng SH, Souza DW, Paul S, Manavalan P, Anderson MP, Welsh MJ, and Smith AE (1991) Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Mol Cell Biol 11:3886-3893. (Pubitemid 21895777)
14. He L, Aleksandrov AA, Serohijos AW, Hegedus T, Aleksandrov LA, Cui L, Dokholyan NV, and Riordan JR (2008) Multiple membrane-cytoplasmic domain contacts in the cystic fibrosis transmembrane conductance regulator (CFTR) mediate regulation of channel gating. J Biol Chem 283:26383-26390.
15. - channel gating by ATP binding and hydrolysis. Proc Natl Acad Sci U S A 97:8675-8680.
16. Illek B, Zhang L, Lewis NC, Moss RB, Dong JY, and Fischer H (1999) Defective function of the cystic fibrosis-causing missense mutation G551D is recovered by genistein. Am J Physiol Cell Physiol 277:C833-C839. (Pubitemid 29525922)
17. Kenakin T (2004) Allosteric modulators: the new generation of receptor antagonist. Mol Interv 4:222-229. (Pubitemid 39199604)
18. Kidd JF, Ramjeesingh M, Stratford F, Huan LJ, and Bear CE (2004) A heteromeric complex of the two nucleotide binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) mediates ATPase activity. J Biol Chem 279:41664-41669. (Pubitemid 39313611)
19. McAuley DF and Elborn JS (2000) Cystic fibrosis: basic science. Paediatr Respir Rev 1:93-100.
20. Mendoza JL and Thomas PJ (2007) Building an understanding of cystic fibrosis on the foundation of ABC transporter structures. J Bioenerg Biomembr 39:499-505.
21. Mense M, Vergani P, White DM, Altberg G, Nairn AC, and Gadsby DC (2006) In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer. EMBO J 25:4728-4739. (Pubitemid 44607019)
22. Monaghan KG, Highsmith WE, Amos J, Pratt VM, Roa B, Friez M, Pike-Buchanan LL, Buyse IM, Redman JB, Strom CM, et al. (2004) Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study. Genet Med 6:421-425. (Pubitemid 39304380)
23. Mornon JP, Lehn P, and Callebaut I (2008) Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces. Cell Mol Life Sci 65:2594-2612.
24. Muanprasat C, Sonawane ND, Salinas D, Taddei A, Galietta LJ, and Verkman AS (2004) Discovery of glycine hydrazide pore-occluding CFTR Inhibitors: mechanism, structure-activity analysis, and in vivo efficacy. J Gen Physiol 124:125-137. (Pubitemid 39038187)
25. Pedemonte N, Sonawane ND, Taddei A, Hu J, Zegarra-Moran O, Suen YF, Robins LI, Dicus CW, Willenbring D, Nantz MH, et al. (2005a) Phenylglycine and sulfonamide correctors of defective deltaF508 and G551D cystic fibrosis transmembrane conductance regulator chloride-channel gating. Mol Pharmacol 67:1797-1807. (Pubitemid 40594181)
26. Pedemonte N, Diena T, Caci E, Nieddu E, Mazzei M, Ravazzolo R, Zegarra-Moran O, and Galietta LJ (2005b) Antihypertensive 1,4-dihydropyridines as correctors of the cystic fibrosis transmembrane conductance regulator channel gating defect caused by cystic fibrosis mutations. Mol Pharmacol 68:1736-1746. (Pubitemid 41654357)
27. Pedemonte N, Lukacs GL, Du K, Caci E, Zegarra-Moran O, Galietta LJ, and Verkman AS (2005c) Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening. J Clin Invest 115:2564-2571.
28. Rohlfs EM, Zhou Z, Sugarman EA, Heim RA, Pace RG, Knowles MR, Silverman LM, and Allitto BA (2002) The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med 4:319-323. (Pubitemid 44698544)
29. Schreiber R, Hopf A, Mall M, Greger R, and Kunzelmann K (1999) The first-nucleotide binding domain of the cystic fibrosis transmembrane conductance regulators is important for inhibition of the epithelial Na channel. Proc Natl Acad Sci U S A 96:5310-5315. (Pubitemid 29214579)
30. Seibert FS, Linsdell P, Loo TW, Hanrahan JW, Riordan JR, and Clarke DM (1996) Cytoplasmic loop three of cystic fibrosis transmembrane conductance regulator contributes to regulation of chloride channel activity. J Biol Chem 271:27493-27499. (Pubitemid 26367311)
31. Seibert FS, Jia Y, Mathews CJ, Hanrahan JW, Riordan JR, Loo TW, and Clarke DM (1997) Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel. Biochemistry 36:11966-11974. (Pubitemid 27424126)
32. Sheppard DN and Welsh MJ (1999) Structure and function of the CFTR chloride channel. Physiol Rev 79:S23-S45. (Pubitemid 29058908)
33. Serohijos AW, Hegedus T, Aleksandrov AA, He L, Cui L, Dokholyan NV, and Riordan JR (2008) Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function. Proc Natl Acad Sci U S A 105:3256-3261. (Pubitemid 351723540)
34. Vankeerberghen A, Wei L, Teng H, Jaspers M, Cassiman JJ, Nilius B, and Cuppens H (1998) Characterization of mutations located in exon 18 of the CFTR gene. FEBS Lett 437:1-4. (Pubitemid 28498229)
35. Verkman AS and Galietta LJ (2009) Chloride channels as drug targets. Nat Rev Drug Discov 8:153-171.
36. Verkman AS, Lukacs GL, and Galietta LJ (2006) CFTR chloride channel drug discovery - inhibitors as antidiarrheals and activators for therapy of cystic fibrosis. Curr Pharm Des 12:2235-2247.
37. Welsh MJ and Smith AE (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73:1251-1254. (Pubitemid 23201140)
38. Yang H, Shelat AA, Guy RK, Gopinath VS, Ma T, Du K, Lukacs GL, Taddei A, Folli C, Pedemonte N, et al. (2003) Nanomolar affinity small molecule correctors of defective Delta F508-CFTR chloride channel gating. J Biol Chem 278:35079-35085. (Pubitemid 37102270)
39. Zegarra-Moran O, Monteverde M, Galietta LJ, and Moran O (2007) Functional analysis of mutations in the putative binding site for cystic fibrosis transmembrane conductance regulator potentiators. Interaction between activation and inhibition. J Biol Chem 282:9098-9104. (Pubitemid 47093516)
40. Zegarra-Moran O, Romio L, Folli C, Caci E, Becq F, Vierfond JM, Mettey Y, Cabrini G, Fanen P, and Galietta LJ (2002) Correction of G551D-CFTR transport defect in epithelial monolayers by genistein but not by CPX or MPB-07. Br J Pharmacol 137:504-512. (Pubitemid 35221904)