Dysfunction of CFTR bearing the AF508 mutation
Abstract
The cystic fibrosis transmembrane conductance regulator (CFTR) is mutated in patients with cystic fibrosis (CF). The most common CF-associated mutation is deletion of phenylanine at residue 508, CFTRAF508. When expressed in heterologous cells, CFTR bearing the AF508 mutation fails to progress through the normal biosynthetic pathway and fails to traffic to the plasma membrane. As a result, CFTRAF508 is mislocalized and is not present in the apical membrane of primary cultures of airway epithelia. Consequently, the apical membrane of CF airway epithelia is Cl--impermeable, a defect that probably contributes to the pathogenesis of the disease.
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CFTR dysfunction caused by F508del is multifactorial, involving defective protein processing and trafficking to the cell surface, reduced channel gating, and high turnover once at the cell surface.
“CFTR dysfunction caused by F508del is multifactorial, with defective protein processing and trafficking to the cell surface, reduced channel gating, and high turnover once at the cell surface.2,9,10”
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Heijerman, H. G. M., McKone, E. F., Downey, D. G., Van Braeckel, E., Rowe, S. M., Tullis, E., Mall, M. A., Welter, J. J., Ramsey, B. W., McKee, C. M., et al. (2019) · The Lancet · doi:10.1016/s0140-6736(19)32597-8 · Cited by 1,414 · see citing works
- Authors
- Welsh, M. J., Denning, G. M., Ostedgaard, L. S., & Anderson, M. P.
- Affiliations
- University of Iowa (US)
- Venue
- Journal of Cell Science
- Publisher
- The Company of Biologists
- Published
- 1993-12-01
- Volume
- 1993
- Issue
- Supplement_17
- Pages
- 235-239
- ISSN
- 0021-9533 (ISSN-L)
- 1477-9137
- OpenAlex
- W2315763562
- Cited by
- 47
- References
- 0
- Citations by year
- 2023: 7 · 2022: 1 · 2021: 2 · 2019: 4 · 2017: 1 · 2016: 3 · 2015: 1 · 2014: 3 · 2013: 1 · 2012: 3
- FWCI
- 1.20
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Cell Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion Transport and Channel Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- CFTR, cystic fibrosis, protein mislocalization, protein trafficking, apical membrane, airway epithelium, chloride permeability
- MeSH terms
- Cell Membrane, Cystic Fibrosis, Epithelium, Glycosylation, Humans, Membrane Proteins, Protein Processing, Post-Translational, Respiratory System, Temperature, Molecular Structure, Sequence Deletion, Chloride Channels, Cystic Fibrosis Transmembrane Conductance Regulator
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