Recent advances in understanding and managing cystic fibrosis transmembrane conductance regulator dysfunction

F1000Prime Reports

Volumn 7, Issue , 2015, Pages

  Griesenbach, Uta ^a   Alton, Eric W F W ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ATALUREN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ION TRANSPORT AFFECTING AGENT; IVACAFTOR; IVACAFTOR PLUS LUMACAFTOR; LUMACAFTOR;

ARTICLE; CLINICAL TRIAL (TOPIC); CONTROLLED CLINICAL TRIAL (TOPIC); CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR RELATED METABOLIC SYNDROME; DISEASE ASSOCIATION; DRUG EFFICACY; GENE; GENE MUTATION; GENE THERAPY; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LIFE EXPECTANCY; MEDICAL GENETICS; METABOLIC DISORDER; MODIFIER GENE; MOLECULAR PATHOLOGY; NEWBORN SCREENING; NONHUMAN; PHASE 3 CLINICAL TRIAL (TOPIC); SEX DIFFERENCE;

EID: 84931272492     PISSN: 20517599     EISSN: 20517599     Source Type: Journal    
DOI: 10.12703/P7-64     Document Type: Article

References (52)

1. UK Cystic Fibrosis Registry: Annual Data report. [www.cysticfibrosis.org.uk/media/598466/annual-data-report-2013-jul14.pdf]
2. Boyle MP, Boeck K de: A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect. The Lancet. Respiratory medicine 2013, 1:158-63.
3. Boucher RC: Airway surface dehydration in cystic fibrosis: pathogenesis and therapy. Annual review of medicine 2007, 58:157-70.
4. Naehrlich L, Ballmann M, Davies J, Derichs N, Gonska T, Hjelte L, van Konigsbruggen-Rietschel S, Leal T, Melotti P, Middleton P, Tümmler B, Vermeulen F, Wilschanski M: Nasal potential difference measurements in diagnosis of cystic fibrosis: an international survey. Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society 2014, 13:24-8.
5. Davies JC, Davies M, McShane D, Smith S, Chadwick S, Jaffe A, Farley R, Collins L, Bush A, Scallon M, Pepper J, Geddes DM, Alton Eric WFW: Potential difference measurements in the lower airway of children with and without cystic fibrosis. American journal of respiratory and critical care medicine 2005, 171:1015-9.
6. Elkins MR, Robinson M, Rose BR, Harbour C, Moriarty CP, Marks GB, Belousova EG, Xuan W, Bye, Peter TP: A controlled trial of longterm inhaled hypertonic saline in patients with cystic fibrosis. The New England journal of medicine 2006, 354:229-40.
7. Rogers CS, Stoltz DA, Meyerholz DK, Ostedgaard LS, Rokhlina T, Taft PJ, Rogan MP, Pezzulo AA, Karp PH, Itani OA, Kabel AC, Wohlford-Lenane CL, Davis GJ, Hanfland RA, Smith TL, Samuel M, Wax D, Murphy CN, Rieke A, Whitworth K, Uc A, Starner TD, Brogden KA, Shilyansky J, McCray PB, Zabner J, Prather RS, Welsh MJ: Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs. Science (New York, NY) 2008, 321:1837-41.
8. Chen J, Stoltz DA, Karp PH, Ernst SE, Pezzulo AA, Moninger TO, Rector MV, Reznikov LR, Launspach JL, Chaloner K, Zabner J, Welsh MJ: Loss of anion transport without increased sodium absorption characterizes newborn porcine cystic fibrosis airway epithelia. Cell 2010, 143:911-23.
9. Pezzulo AA, Tang XX, Hoegger MJ, Alaiwa, Mahmoud H Abou, Ramachandran S, Moninger TO, Karp PH, Wohlford-Lenane CL, Haagsman HP, van Eijk M, Bánfi B, Horswill AR, Stoltz DA, McCray PB, Welsh MJ, Zabner J: Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung. Nature 2012, 487:109-13.
10. Quinton PM: Role of epithelial HCO3- transport in mucin secretion: lessons from cystic fibrosis. American journal of physiology. Cell physiology 2010, 299:C1222-33.
11. Kelly C, Canning P, Buchanan PJ, Williams MT, Brown V, Gruenert DC, Elborn JS, Ennis M, Schock BC: Toll-like receptor 4 is not targeted to the lysosome in cystic fibrosis airway epithelial cells. American journal of physiology. Lung cellular and molecular physiology 2013, 304:L371-82.
12. Smith DJ, Lamont IL, Anderson GJ, Reid DW: Targeting iron uptake to control Pseudomonas aeruginosa infections in cystic fibrosis. The European respiratory journal 2013, 42:1723-36.
13. Goldstein W, Döring G: Lysosomal enzymes from polymorphonuclear leukocytes and proteinase inhibitors in patients with cystic fibrosis. The American review of respiratory disease 1986, 134:49-56.
14. Nakamura H, Yoshimura K, McElvaney NG, Crystal RG: Neutrophil elastase in respiratory epithelial lining fluid of individuals with cystic fibrosis induces interleukin-8 gene expression in a human bronchial epithelial cell line. The Journal of clinical investigation 1992, 89:1478-84.
15. Haggie PM, Verkman AS: Cystic fibrosis transmembrane conductance regulator-independent phagosomal acidification in macrophages. The Journal of biological chemistry 2007, 282:31422-8.
16. Di A, Brown ME, Deriy LV, Li C, Szeto FL, Chen Y, Huang P, Tong J, Naren AP, Bindokas V, Palfrey HC, Nelson DJ: CFTR regulates phagosome acidification in macrophages and alters bactericidal activity. Nature cell biology 2006, 8:933-44.
17. Mueller C, Braag SA, Keeler A, Hodges C, Drumm M, Flotte TR: Lack of cystic fibrosis transmembrane conductance regulator in CD3+ lymphocytes leads to aberrant cytokine secretion and hyperinflammatory adaptive immune responses. American journal of respiratory cell and molecular biology 2011, 44:922-9.
18. Cantin AM, Hanrahan JW, Bilodeau G, Ellis L, Dupuis A, Liao J, Zielenski J, Durie P: Cystic fibrosis transmembrane conductance regulator function is suppressed in cigarette smokers. American journal of respiratory and critical care medicine 2006, 173:1139-44.
19. Raju SV, Jackson PL, Courville CA, McNicholas CM, Sloane PA, Sabbatini G, Tidwell S, Tang LP, Liu B, Fortenberry JA, Jones CW, Boydston JA, Clancy JP, Bowen LE, Accurso FJ, Blalock JE, Dransfield MT, Rowe SM: Cigarette smoke induces systemic defects in cystic fibrosis transmembrane conductance regulator function. American journal of respiratory and critical care medicine 2013, 188:1321-30.
20. Crystal RG: Are the smoking-induced diseases an acquired form of cystic fibrosis? American journal of respiratory and critical care medicine 2013, 188:1277-8.
21. Harness-Brumley CL, Elliott AC, Rosenbluth DB, Raghavan D, Jain R: Gender differences in outcomes of patients with cystic fibrosis. Journal of women's health (2002) 2014, 23:1012-20.
22. Sanders DB, Li Z, Laxova A, Rock MJ, Levy H, Collins J, Ferec C, Farrell PM: Risk factors for the progression of cystic fibrosis lung disease throughout childhood. Annals of the American Thoracic Society 2014, 11:63-72.
23. Ford ES: Trends in mortality from chronic obstructive pulmonary disease among adults in the United States. Chest 2014.
24. Lin RY, Lee GB: The gender disparity in adult asthma hospitalizations dynamically relates to age. The Journal of asthma: official journal of the Association for the Care of Asthma 2008, 45:931-5.
25. Singh AK, Schultz BD, Katzenellenbogen JA, Price EM, Bridges RJ, Bradbury NA: Estrogen inhibition of cystic fibrosis transmembrane conductance regulator-mediated chloride secretion. The Journal of pharmacology and experimental therapeutics 2000, 295:195-204.
26. Coakley RD, Sun H, Clunes LA, Rasmussen JE, Stackhouse JR, Okada SF, Fricks I, Young SL, Tarran R: 17beta-Estradiol inhibits Ca2+-dependent homeostasis of airway surface liquid volume in human cystic fibrosis airway epithelia. The Journal of clinical investigation 2008, 118:4025-35.
27. Jain R, Ray JM, Pan J, Brody SL: Sex hormone-dependent regulation of cilia beat frequency in airway epithelium. American journal of respiratory cell and molecular biology 2012, 46:446-53.
28. Chotirmall SH, Smith SG, Gunaratnam C, Cosgrove S, Dimitrov BD, O'Neill SJ, Harvey BJ, Greene CM, McElvaney NG: Effect of estrogen on pseudomonas mucoidy and exacerbations in cystic fibrosis. The New England journal of medicine 2012, 366:1978-86.
29. Kernan NG, Alton, Eric WFW, Cullinan P, Griesenbach U, Bilton D: Oral contraceptives do not appear to affect cystic fibrosis disease severity. The European respiratory journal 2013, 41:67-73.
30. Jain M, Goss CH: Update in cystic fibrosis 2013. American journal of respiratory and critical care medicine 2014, 189:1181-6.
31. Borowitz D, Parad RB, Sharp JK, Sabadosa KA, Robinson KA, Rock MJ, Farrell PM, Sontag MK, Rosenfeld M, Davis SD, Marshall BC, Accurso FJ: Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. The Journal of pediatrics 2009, 155:S106-16.
32. Wang Y, Wrennall JA, Cai Z, Li H, Sheppard DN: Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models. The international journal of biochemistry & cell biology 2014, 52:47-57.
33. Castellani C: CFTR2: How will it help care? Paediatric respiratory reviews 2013, 14(Suppl 1):2-5.
34. Lim, MTC, Wallis C, Price JF, Carr SB, Chavasse RJ, Shankar A, Seddon P, Balfour-Lynn IM: Diagnosis of cystic fibrosis in London and South East England before and after the introduction of newborn screening. Archives of disease in childhood 2014, 99:197-202.
35. Ferrari M, Cremonesi L: Genotype-phenotype correlation in cystic fibrosis patients. Annales de biologie clinique 1996, 54:235-41.
36. Gallati S: Disease-modifying genes and monogenic disorders: experience in cystic fibrosis. The application of clinical genetics 2014, 7:133-46.
37. Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR: Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Human molecular genetics 2005, 14:3493-8.
38. Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, Des Georges M, Stanke F, Boeck K de, Dupont L, Balascáková M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, Monestrol I de, Girodon E, Férec C, Claustres M, Tümmler B, Cassiman J, Korbmacher C, Cuppens H: Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Human mutation 2009, 30:1093-103.
39. Ramos MD, Trujillano D, Olivar R, Sotillo F, Ossowski S, Manzanares J, Costa J, Gartner S, Oliva C, Quintana E, Gonzalez MI, Vazquez C, Estivill X, Casals T: Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes. Clinical genetics 2014, 86:91-5.
40. Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, Dřevínek P, Griese M, McKone EF, Wainwright CE, Konstan MW, Moss R, Ratjen F, Sermet-Gaudelus I, Rowe SM, Dong Q, Rodriguez S, Yen K, Ordoñez C, Elborn JS: A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. The New England journal of medicine 2011, 365:1663-72.
41. Boeck K de, Munck A, Walker S, Faro A, Hiatt P, Gilmartin G, Higgins M: Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society 2014, 13:674-80.
42. Flume PA, Liou TG, Borowitz DS, Li H, Yen K, Ordoñez CL, Geller DE: Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest 2012, 142:718-24.
43. Bell SC, Boeck K de, Amaral MD: New pharmacological approaches for cystic fibrosis: promises, progress, pitfalls. Pharmacology & therapeutics 2015, 145:19-34.
44. Clancy JP, Rowe SM, Accurso FJ, Aitken ML, Amin RS, Ashlock MA, Ballmann M, Boyle MP, Bronsveld I, Campbell PW, Boeck K de, Donaldson SH, Dorkin HL, Dunitz JM, Durie PR, Jain M, Leonard A, McCoy KS, Moss RB, Pilewski JM, Rosenbluth DB, Rubenstein RC, Schechter MS, Botfield M, Ordoñez CL, Spencer-Green GT, Vernillet L, Wisseh S, Yen K, Konstan MW: Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation. Thorax 2012, 67:12-8.
45. Boyle MP, Bell SC, Konstan MW, McColley SA, Rowe SM, Rietschel E, Huang X, Waltz D, Patel NR, Rodman D: A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. The Lancet. Respiratory medicine 2014, 2:527-38.
46. Kerem E, Konstan MW, Boeck K de, Accurso FJ, Sermet-Gaudelus I, Wilschanski M, Elborn JS, Melotti P, Bronsveld I, Fajac I, Malfroot A, Rosenbluth DB, Walker PA, McColley SA, Knoop C, Quattrucci S, Rietschel E, Zeitlin PL, Barth J, Elfring GL, Welch EM, Branstrom A, Spiegel RJ, Peltz SW, Ajayi T, Rowe SM: Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. The Lancet. Respiratory medicine 2014, 2:539-47.
47. Oakland M, Sinn PL, McCray PB: Advances in cell and gene-based therapies for cystic fibrosis lung disease. Molecular therapy: the journal of the American Society of Gene Therapy 2012, 20:1108-15.
48. Griesenbach U, Alton, Eric WFW: Moving forward: cystic fibrosis gene therapy. Human molecular genetics 2013, 22:R52-8.
49. Mitomo K, Griesenbach U, Inoue M, Somerton L, Meng C, Akiba E, Tabata T, Ueda Y, Frankel GM, Farley R, Singh C, Chan M, Munkonge F, Brum A, Xenariou S, Escudero-Garcia S, Hasegawa M, Alton, Eric WFW: Toward gene therapy for cystic fibrosis using a lentivirus pseudotyped with Sendai virus envelopes. Molecular therapy: the journal of the American Society of Gene Therapy 2010, 18:1173-82.
50. Griesenbach U, Inoue M, Meng C, Farley R, Chan M, Newman NK, Brum A, You J, Kerton A, Shoemark A, Boyd AC, Davies JC, Higgins TE, Gill DR, Hyde SC, Innes JA, Porteous DJ, Hasegawa M, Alton, Eric WFW: Assessment of F/HN-pseudotyped lentivirus as a clinically relevant vector for lung gene therapy. American journal of respiratory and critical care medicine 2012, 186:846-56.
51. Hirsh AJ, Molino BF, Zhang J, Astakhova N, Geiss WB, Sargent BJ, Swenson BD, Usyatinsky A, Wyle MJ, Boucher RC, Smith RT, Zamurs A, Johnson MR: Design, synthesis, and structure-activity relationships of novel 2-substituted pyrazinoylguanidine epithelial sodium channel blockers: drugs for cystic fibrosis and chronic bronchitis. Journal of medicinal chemistry 2006, 49:4098-115.
52. Donaldson SH, Boucher RC: Sodium channels and cystic fibrosis. Chest 2007, 132:1631-6.