In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing ΔF08-CFTR

Journal of Clinical Investigation

Volumn 100, Issue 10, 1997, Pages 2457-2465

  Rubenstein, Ronald C ^a   Egan, Marie E ^b   Zeitlin, Pamela L ^a  

^a JOHNS HOPKINS HOSPITAL   (United States)

^b YALE UNIVERSITY   (United States)

Author keywords

CFTR; Cystic fibrosis; Pharmacotherapy; Phenylbutyrate

Indexed keywords

4 PHENYLBUTYRIC ACID; ARYLBUTYRIC ACID DERIVATIVE; CHLORIDE CHANNEL; CHLORIDE ION; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

ARTICLE; CHLORIDE TRANSPORT; CONTROLLED STUDY; CYSTIC FIBROSIS; DRUG MECHANISM; EPITHELIUM CELL; GENE MUTATION; HUMAN; HUMAN CELL; PRIORITY JOURNAL; TRANSCRIPTION REGULATION;

EID: 0030809817     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119788     Document Type: Article

References (35)

1. Li, C., M. Ramjeesingh, E. Reyes, T. Jensen, X. Chang, J.M. Rommens, and C.E. Bear. 1993. The cystic fibrosis mutation delta F508 does not influence the chloride channel activity of CFTR. Nat. Genet. 3:311-316.
2. - channel activity in Xenopus oocytes expressing the cystic fibrosis gene. J. Biol. Chem. 266:19142-19145.
3. Cunningham, S.A., R.T. Worrell, D.J. Benos, and R.A. Frizzell. 1992. cAMP-stimulated ion currents in Xenopus oocytes expressing CFTR cRNA. Am. J. Physiol. 262:C783-C788.
4. - channel is functional when retained in endoplasmic reticulum of mammalian cells. J. Biol. Chem. 270:12347-12350.
5. Cheng, S.H., R.J. Gregory, J. Marshall, S. Paul, D.W. Souza, G.A. White, C.R. O'Riordan, and A.E. Smith. 1990. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell. 63:827-834.
6. Pind, S., J.R. Riordan, and D.B. Williams. 1994. Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator. J. Biol. Chem. 269:12784-12788.
7. Yang, Y., S. Janich, J.A. Cohn, and J.M. Wilson. 1993. The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment. Proc. Natl. Acad. Sci. USA. 90:9480-9484.
8. Jensen, T.J., M.A. Loo, S. Pind, D.B. Williams, A.L. Goldberg, and J.R. Riordan. 1995. Multiple proteolytic systems, including the proteasome, contribute to CFTR processing. Cell. 83:129-135.
9. Ward, C.L., S. Omura, and R.R. Kopito. 1995. Degradation of CFTR by the ubiquitin-proteasome pathway. Cell. 83:121-127.
10. Cheng, S.H., S.L. Fang, J. Zabner, J. Marshall, S. Piraino, S.C. Schiavi, D.M. Jefferson, M.J. Welsh, and A.E. Smith. 1995. Functional activation of the cystic fibrosis trafficking mutant deltaF508-CFTR by overexpression. Am. J. Physiol. 268:L615-L624.
11. Perrine, S.P., G.D. Ginder, D.V. Faller, G.H. Dover, T. Ikuta, H.E. Witkowska, S.-P. Cai, E.P. Vichinsky, and N.F. Oliveri. 1993. A short-term trial of butyrate to stimulate fetal-globin-gene expression in the β-globin disorders. N. Engl. J. Med. 328:81-86.
12. Denning, G.M., M.A. Anderson, J.F. Amara, J. Marshall, A.E. Smith, and M.J. Welsh. 1992. Processing of mutant cystic fibrosis transmembrane regulator is temperature-sensitive. Nature. 358:761-764.
13. Brown, C.R., L.Q. Hong-Brown, J. Biwersi, A.S. Verkman, and W.J. Welch. 1996. Chemical chaperones correct the mutant phenotype of the deltaF508 cystic fibrosis transmembrane conductance regulator protein. Cell Stress & Chaperones. 1:117-125.
14. Sato, S., C.L. Ward, M.E. Krouse, J.J. Wine, and R.R. Kopito. 1996. Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J. Biol. Chem. 271:635-638.
15. Dover, G.J., S. Brusilow, and D. Samid. 1992. Increased fetal hemoglobin in patients receiving sodium 4-phenylbutyrate. N. Engl. J. Med. 327:569-570.
16. Chen, W.Y., E.C. Bailey, S.L. McCune, J.Y. Dong, and T.M. Townes. 1997. Reactivation of silenced, virally transduced genes by inhibitors of histone deacetylase. Proc. Natl. Acad. Sci. USA. 94:5798-5803.
17. Zeitlin, P.L., L. Lu, J. Rhim, G. Cutting, G. Stetten, K.A. Kieffer, R. Craig, and W.B. Guggino. 1991. A cystic fibrosis bronchial epithelial cell line: immortalization by adeno-12-SV40 infection. Am. J. Respir. Cell Mol. Biol. 4: 313-319.
18. Trapnell, B.C., P.L. Zeitlin, C.S. Chu, K. Yoshimura, H. Nakamura, W.B. Guggino, J. Bargon, T.C. Banks, W. Dalemans, A. Pavirani, et al. 1991. Down-regulation of cystic fibrosis gene mRNA transcript levels and induction of the cystic fibrosis chloride secretory phenotype in epithelial cells by phorbol ester. J. Biol. Chem. 266:10319-10323.
19. Egan, M.E., E.M. Schwiebert, and W.B. Guggino. 1995. Differential expression of ORCC and CFTR induced by low temperature in CF airway epithelial cells. Am. J. Physiol. 268:C243-C251.
20. McGrath, S.A., A. Basu, and P.L. Zeitlin. 1993. Cystic fibrosis gene and protein expression during fetal lung development. Am. J. Respir. Cell Mol. Biol. 8:201-208.
21. Hamosh, A., B.J. Rosenstein, and G.R. Cutting. 1992. CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Hum. Mol. Genet. 1:542-544.
22. Howard, M., R.A. Frizzell, and D.M. Bedwell. 1996. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat. Med. 2:467-469.
23. Dietz, H.C., and A. Hamosh. 1996. Letter to the editor. Nat. Med. 2:608.
24. Bedwell, D.M., M. Howard, and R.A. Frizzell. 1996. Letter to the editor. Nat. Med. 6:608-609.
25. Dalemans, W., P. Barbry, G. Champigny, S. Jallat, K. Dolt, D. Dreyer, R.G. Crystal, A. Pavirani, J.-P. Lecocq, and M. Lazdunski. 1991. Altered chloride channel kinetics associated with the deltaF508 cystic fibrosis mutation. Nature. 354:526-528.
26. Brusilow, S.W. 1991. Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion. Pediatr. Res. 29:147-150.
27. - channels by protein kinase A corrected by insertion of CFTR. Nature. 358:581-584.
28. Maestri, N.E., S.W. Brusilow, D.B. Clissold, and S.S. Bassett. 1996. Long-term treatment of girls with ornithine transcarbamylase deficiency. N. Engl. J. Med. 335:855-859.
29. Collins, A.F., H.A. Pearson, P. Giardina, K.T. McDonagh, S.W. Brusilow, and G.J. Dover. 1995. Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial. Blood. 85:43-49.
30. Carducci, M.A., J.B. Nelson, K.M. Chan-Tack, S.R. Ayyagari, W.S. Sweatt, P.A. Campbell, W.O. Nelson, and J.W. Simons. 1996. Phenylbutyrate induces apoptosis in human prostate cancer and is more potent than phenylacetate. Clin. Cancer Res. 2:379-387.
31. Trapnell, B.C., C.-S. Chu, P.K. Paakko, T.C. Banks, K. Yoshimura, V.J. Ferrans, M.S. Chernick, and R.G. Crystal. 1991. Expression of the cystic fibrosis transmembrane conductance regulator gene in the respiratory tract of normal individuals and individuals with cystic fibrosis. Proc. Natl. Acad. Sci. USA. 88: 6565-6569.
32. Morales, M.M., T.P. Carroll, T. Morita, E.M. Schwiebert, O. Devuyst, P.D. Wilson, A.G. Lopes, B.A. Stanton, H.C. Dietz, G.R. Cutting, and W.B. Guggino. 1997. Both the wild type and a functional isoform of CFTR are expressed in kidney. Am. J. Physiol. 270:F1038-F1048.
33. Thomas, P.J., and P.L. Pedersen. 1993. Effects of the deltaF508 mutation on the structure, function, and folding of the first nucleotide-binding domain of CFTR. J. Bioenerg. Biomembr. 25:11-19.
34. Thomas, P.J., J.S. Shenbagamurthi, J.M. Hullihen, and P.L. Pedersen. 1992. The cystic fibrosis transmembrane conductance regulator: effects of the most common cystic fibrosis-causing mutation on the secondary structure and stability of a synthetic peptide. J. Biol. Chem. 267:5727-5730.
35. Qu, B.-H., and P.J. Thomas. 1996. Alteration of the cystic fibrosis transmembrane conductance regulator folding pathway: effects of the deltaF508 mutation on the thermodynamic stability and folding yield of NBD1. J. Biol. Chem. 271:7261-7264.