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Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis

Nico Derichs
European Respiratory Review 2013 22: 58-65; DOI: 10.1183/09059180.00008412
Nico Derichs
CFTR Biomarker Centre and Translational CF Research Group Christiane Herzog Cystic Fibrosis Centre, Paediatric Pulmonology and Immunology, Charité Universitätsmedizin Berlin, Berlin, Germany
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Abstract

Cystic fibrosis (CF) is caused by genetic mutations that affect the cystic fibrosis transmembrane conductance regulator (CFTR) protein. These mutations can impact the synthesis and transfer of the CFTR protein to the apical membrane of epithelial cells, as well as influencing the gating or conductance of chloride and bicarbonate ions through the channel. CFTR dysfunction results in ionic imbalance of epithelial secretions in several organ systems, such as the pancreas, gastrointestinal tract, liver and the respiratory system. Since discovery of the CFTR gene in 1989, research has focussed on targeting the underlying genetic defect to identify a disease-modifying treatment for CF. Investigated management strategies have included gene therapy and the development of small molecules that target CFTR mutations, known as CFTR modulators. CFTR modulators are typically identified by high-throughput screening assays, followed by preclinical validation using cell culture systems. Recently, one such modulator, the CFTR potentiator ivacaftor, was approved as an oral therapy for CF patients with the G551D-CFTR mutation. The clinical development of ivacaftor not only represents a breakthrough in CF care but also serves as a noteworthy example of personalised medicine.

  • CFTR modulators
  • cystic fibrosis
  • G551D mutation
  • ivacaftor
  • personalised medicine
  • VX-770

Footnotes

  • Provenance

    Publication of this peer-reviewed article was supported by Vertex Pharmaceuticals Inc., USA (principal sponsor, European Respiratory Review issue 127).

  • Statement of Interest

    N. Derichs received speaker honorarium from Vertex Pharmaceuticals Inc. for participation in a symposium and served as a consultant for Vertex Inc. at educational activities and advisory boards.

  • Received December 20, 2012.
  • Accepted January 12, 2013.
  • ©ERS 2013
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Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis
Nico Derichs
European Respiratory Review Mar 2013, 22 (127) 58-65; DOI: 10.1183/09059180.00008412

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Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis
Nico Derichs
European Respiratory Review Mar 2013, 22 (127) 58-65; DOI: 10.1183/09059180.00008412
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  • Article
    • Abstract
    • GENETICS OF CFTR
    • CFTR PROTEIN STRUCTURE
    • CFTR PROTEIN SYNTHESIS
    • CLINICAL MANIFESTATIONS OF CF
    • DEVELOPMENT OF CF DISEASE-MODIFYING THERAPIES
    • ADVANCING CF DRUG DISCOVERY USING SENSITIVE SURROGATE BIOMARKERS
    • CONCLUSIONS
    • Acknowledgments
    • Footnotes
    • REFERENCES
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Subjects

  • Interstitial and orphan lung disease
  • Genetics
  • CF and non-CF bronchiectasis
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  • Role of air pollutants in airway epithelial barrier dysfunction
  • E-cigarettes and nicotine abstinence
  • Lung imaging in cystic fibrosis
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