Cystic Fibrosis: Gene Therapy

Terence R Flotte, Department of Pediatrics and Powell Gene Therapy Center at the University of Florida Genetics Institute, Gainesville, Florida, USA
Isabel Virella‐Lowell, Department of Pediatrics University of Florida, Gainesville, FL, USA

Published online: January 2006

DOI: 10.1038/npg.els.0005749

Cystic fibrosis is an autosomal recessive disease caused by mutations of the CFTR protein, a member of the ATP-binding cassette superfamily of transmembrane proteins. CFTR can act as a cAMP-activated chloride channel and as a regulator of other ion channels in exocrine glands and other ductular structures.

Keywords: gene therapy; clinical trials; lung; cystic fibrosis

 References
    Crystal RG, McElvaney NG, Rosenfeld MA, et al. (1994) Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis. Nature Genetics 8(1): 42–51.
    DiMango E, Ratner A, Bryan R, Tabibi S and Prince A (1998) Activation of NF-kappaB by adherent Pseudomonas aeruginosa in normal and cystic fibrosis respiratory epithelial cells. Journal of Clinical Investigation 101(11): 2598–2605.
    Duan D, Yue Y, Yan Z and Engelhardt JF (2000) A new dual-vector approach to enhance recombinant adeno-associated virus-mediated gene expression through intermolecular cis activation. Nature Medicine 6(5): 595–598.
    Egan M, Flotte T, Afione S, et al. (1992) Correction of defective PKA regulation of outwardly rectifying chloride channels by insertion of normal CFTR into CF airway cells [see comments]. Nature 358(6387): 581–584.
    Flotte TR, Afione SA, Solow R, et al. (1993) Stable in vivo expression of the cystic fibrosis transmembrane conductance regulator with an adeno-associated virus vector. Proceedings of the National Academy of Sciences of the United States of America 90(22): 10613–10617.
    Kotin RM, Siniscalco M, Samulski RJ, et al. (1990) Site-specific integration by adeno-associated virus. Proceedings of the National Academy of Sciences of the United States of America 87(6): 2211–2215.
    Riordan JR, Rommens JM, Kerem BS, et al. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245(4922): 1066–1073; erratum Science 245(4925): 1437.
    Virella-Lowell I, Poirier A, Chesnut KA, Brantly M and Flotte TR (2000) Inhibition of recombinant adeno-associated virus (rAAV) transduction by bronchial secretions from cystic fibrosis patients. Gene Therapy 7: 1783–1789.
    Wagner JA, Reynolds T, Moran ML, et al. (1998) Efficient and persistent gene transfer of AAV-CFTR in maxillary sinus [letter]. Lancet 351(9117): 1702–1703.
    Welsh MJ and Smith AE (1993) Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73(7): 1251–1254.
 Further Reading
    Flotte TR (1999) Gene therapy for cystic fibrosis. Current Opinion in Molecular Therapy 1(4): 510–516.
    book Lobeck CC (1995) "Cystic fibrosis". Scriver CR (ed.) The Metabolic and Molecular Bases of Inherited Disease, pp. 1605–1626. New York, NY: McGraw-Hill.
    book Rosenstein B (1994) "Cystic fibrosis". In: Louglin G and Eigen H (eds.) Respiratory Disease in Children: Diagnosis and Management, pp. 263–289. Baltimore, MD: Williams and Wilkins.
 Web Links
    ePath Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) (CFTR); Locus ID: 1080. LocusLink:http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1080
    ePath Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) (CFTR); MIM number: 602421. OMIM:http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602421

Related Sub-Topics:

Viruses in Gene Therapy | Specific Genetic Disorders | Techniques and Tools in Clinical Genetics | Gene Therapy
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Article Title: Cystic Fibrosis: Gene Therapy
 
How to Cite close
Flotte, Terence R, and Virella‐Lowell, Isabel(Jan 2006) Cystic Fibrosis: Gene Therapy. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005749]