20. Case Study: Cystic Fibrosis

  1. Stephen R. Bolsover1,
  2. Jeremy S. Hyams2,
  3. Elizabeth A. Shephard3,
  4. Hugh A. White3 and
  5. Claudia G. Wiedemann1

Published Online: 27 JAN 2004

DOI: 10.1002/047146158X.ch20

Cell Biology: A Short Course, Second Edition

Cell Biology: A Short Course, Second Edition

How to Cite

Bolsover, S. R., Hyams, J. S., Shephard, E. A., White, H. A. and Wiedemann, C. G. (2003) Case Study: Cystic Fibrosis, in Cell Biology: A Short Course, Second Edition, John Wiley & Sons, Inc., Hoboken, NJ, USA. doi: 10.1002/047146158X.ch20

Author Information

  1. 1

    Department of Physiology, University College, London, UK

  2. 2

    Department of Biology, University College, London, UK

  3. 3

    Department of Biochemistry and Molecular Biology, University College, London, UK

Publication History

  1. Published Online: 27 JAN 2004
  2. Published Print: 14 NOV 2003

ISBN Information

Print ISBN: 9780471263937

Online ISBN: 9780471461586

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Keywords:

  • genetic disease;
  • chloride transport;
  • CFTR gene;
  • gene therapy;
  • diagnostic test

Summary

In this chapter we use the relatively common genetic disease cystic fibrosis (CF) to illustrate many of the concepts covered in the book. CF is inherited in a simple recessive manner. Molecular genetics isolated the CFTR gene and electrical measurements showed the CFTR protein to be a plasma membrane chloride channel. Studies of patients' genes showed that the symptoms sometimes arise through a simple failure to synthesize a functional protein but most often are due to a failure to traffic the protein to the plasma membrane. Knowledge of the gene has allowed diagnostic tests for CF in fetuses and may lead in the future to gene therapy for patients.