Cystic fibrosis transmembrane conductance regulator (CFTR) activity in nasal epithelial cells from cystic fibrosis patients with severe genotypes

Clinical Science

Volumn 103, Issue 4, 2002, Pages 417-424

  Andersson, Charlotte ^a   Dragomir, A ^a   Hjelte, L ^a   Roomans, G M ^a  

^a UPPSALA UNIVERSITY   (Sweden)

Author keywords

Chloride channels; Fluorescent dyes; Human; Mutation; Respiratory mucosa

Indexed keywords

ANTIBIOTIC AGENT; CYCLIC AMP; ESSENTIAL FATTY ACID; FORSKOLIN; ISOBUTYLMETHYLXANTHINE; PHOSPHOLIPID; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ANTIBIOTIC THERAPY; ARTICLE; BACTERIAL COLONIZATION; CHLORIDE TRANSPORT; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; EPITHELIUM CELL; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; LUNG FUNCTION; MALE; NOSE MUCOSA; PHOSPHOLIPID BLOOD LEVEL; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; SCORING SYSTEM;

EID: 0036798442     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/cs1030417     Document Type: Article

References (41)

1. Riordan, J. R., Rommens, J. M., Kerem, B. et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245, 1066-1073
2. Rommens, J. M., Iannuzzi, M. C., Kerem, B. et al. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245, 1059-1065
3. Reference deleted
4. Anderson, M. P., Gregory, R. J., Thompson, S. et al. (1991) Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science 253, 202-205
5. Bear, C. E., Li, C. H., Kartner, N. et al. (1992) Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell 68, 809-818
6. Quinton, P. M. (1990) Cystic fibrosis: a disease in electrolyte transport. FASEB J. 4, 2709-2717
7. Tsui, L. C. and Durie, P. (1997) Genotype and phenotype in cystic fibrosis. Hosp. Pract. 32, 115-134
8. Lukacs, G. L., Mohamed, A., Kartner, N., Chang, X. B., Riordan, J. R. and Grinstein, S. (1994) Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP. EMBO J. 13, 6076-6086
9. Welsh, M. J. and Smith, A. E. (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73, 1251-1254
10. Mickle, J. E. and Cutting, G. R. (2000) Genotype-phenotype relationships in cystic fibrosis. Med. Clin. North Am. 84, 597-607
11. Zielenski, J. (2000) Genotype and phenotype in cystic fibrosis. Respiration 67, 117-133
12. Shwachman, H. and Kulczycki, L. L. (1958) Long term study of one hundred and five patients with cystic fibrosis: studies made over a 5-14 year period. J. Dis. Child. 96, 6-15
13. Bhalla, M., Turcios, N., Aponte, V. et al. (1991) Cystic fibrosis: scoring system with thin-section CT. Radiology 179, 783-788
14. Ellin, A., van den Berg, S. and Strandvik, B. (1991) A simplified analysis of fatty acids in serum phospholipids using Sep-Pak cartridges. Clin. Chim. Acta 200, 59-61
15. Dragomir, A., Andersson, C., Åslund, M., Hjelte, L. and Roomans, G. M. (2001) Assessment of chloride secretion in human nasal epithelial cells by X-ray microanalysis. J. Microsc. 203, 277-284
16. Verkman, A. S. (1990) Development and biological applications of chloride-sensitive fluorescent indicators. Am. J. Physiol. 259, C375-C388
17. Chao, A. C., Widdicombe, J. H. and Verkman, A. S. (1990) Chloride conductive and cotransport mechanisms in cultures of canine tracheal epithelial cells measured by an entrapped fluorescent indicator. J. Membr. Biol. 113, 193-202
18. Verkman, A. S., Sellers, M. C., Chao, A. C., Leung, T. and Ketcham, R. (1989) Synthesis and characterization of improved chloride-sensitive fluorescent indicators for biological applications. Anal. Biochem. 178, 355-361
19. Rozmahel, R., Wilschanski, M., Matin, A. et al. (1996) Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat. Genet. 12, 280-287
20. Teem, J. L., Berger, H. A., Ostedgaard, L. S., Rich, D. P., Tsui, L. C. and Welsh, M. J. (1993) Identification of revertants for the cystic fibrosis delta F508 mutation using STE6-CFTR chimeras in yeast. Cell 73, 335-346
21. Clain, J., Fritsch, J., Lehmann-Che, J. et al. (2001) Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function. J. Biol. Chem. 276, 9045-9049
22. Duarte, A., Amaral, M., Barreto, C., Pacheco, P. and Lavinha, J. (1996) Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient. Hum. Mutat. 8, 134-139
23. Dean, M., White, M. B., Amos, J. et al. (1990) Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 61, 863-870
24. Liechti-Gallati, S., Bonsall, I., Malik, N. et al. (1992) Genotype/phenotype association in cystic fibrosis: analyses of the delta F508, R553X, and 3905insT mutations. Pediatr. Res. 32, 175-178
25. Kälin, N., Claass, A., Sommer, M., Puchelle, E. and Tummler, B. (1999) DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis. J. Clin. Invest. 103, 1379-1389
26. Penque, D., Mendes, F., Beck, S. et al. (2000) Cystic fibrosis F508del patients have apically localized CFTR in a reduced number of airway cells. Lab. Invest. 80, 857-868
27. Schaedel, C., Hjelte, L., de Monestrol, I. et al. (1999) Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden. Clin. Genet. 56, 318-322
28. Schwartz, M., Anvret, M., Claustres, M. et al. (1994) 394delTT: a Nordic cystic fibrosis mutation. Hum. Genet. 93, 157-161
29. Sermet-Gaudelus, I., Tosossi, T., Urbin, I. et al. (2000) Mild phenotype and deltaF508 homozygous genotype of cystic fibrosis patients is associated with a cAMP-stimulated anion conductive pathway in nasal ciliated cells. XIIIth International Cystic Fibrosis Congress Abstract Book, Stockholm, 91
30. Schaedel, C., de Monestrol., I., Hjelte, L. et al. (2002) Predictors of deterioration of lung function in cystic fibrosis. Pediatr. Pulmonol. 33, 483-491
31. Thomas, S. R., Jaffe, A., Geddes, D. M., Hodson, M. E. and Alton, E. W. (1999) Pulmonary disease severity in men with deltaF508 cystic fibrosis and residual chloride secretion. Lancet 353, 984-985
32. Ho, L. P., Samways, J. M., Porteous, D. J. et al. (1997) Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis. Eur. Respir. J. 10, 2018-2022
33. Carlstedt-Duke, J., Brönnegård, M. and Strandvik, B. (1986) Pathological regulation of arachidonic acid release in cystic fibrosis: the putative basic defect. Proc. Natl. Acad. Sci. U.S.A. 83, 9202-9206
34. Roulet, M., Frascarolo, P., Rappaz, I. and Pilet, M. (1997) Essential fatty acid deficiency in well nourished young cystic fibrosis patients. Eur. J. Pediatr. 156, 952-956
35. Strandvik, B., Svensson, E. and Seyberth, H. W. (1996) Prostanoid biosynthesis in patients with cystic fibrosis. Prostaglandins, Leukotrienes Essent. Fatty Acids 55, 419-425
36. Freedman, S. D., Katz, M. H., Parker, E. M., Laposata, M., Urman, M. Y. and Alvarez, J. G. (1999) A membrane lipid imbalance plays a role in the phenotypic expression of cystic fibrosis in cftr(-/-) mice. Proc. Natl. Acad. Sci. U.S.A. 96, 13995-14000
37. Sermet-Gaudelus, I., Stoven, V., Annereau, J. P. et al. (1999) Interest of colchicine for the treatment of cystic fibrosis patients. Preliminary report. Mediat. Inflamm. 8, 13-15
38. Idriss, H. T., Hannun, Y. A., Boulpaep, E. and Basavappa, S. (2000) Regulation of volume-activated chloride channels by P-glycoprotein: phosphorylation has the final say! J. Physiol. (Cambridge, U.K.) 524, 629-636
39. - channel. J. Membr. Biol. 157, 63-69
40. - currents. Am. J. Physiol. 276, C370-C378
41. Johannesson, M., Nordqvist, A. C., Bogdanovic, N., Hjelte, L. and Schalling, M. (1997) Polymorphic expression of multidrug resistance mRNA in lung parenchyma of nonpregnant and pregnant rats: a comparison to cystic fibrosis mRNA expression. Biochem. Biophys. Res. Commun. 239, 606-611