Protocol

Cystic Fibrosis

Volume 741 of the series Methods in Molecular Biology pp 87-107

Date:

Measurement of Ion Transport Function in Rectal Biopsies

  • Martin J. HugAffiliated withPharmacy, University Medical Center Freiburg Email author 
  • , Nico DerichsAffiliated withCystic Fibrosis Center, Pediatric Pulmonology and Neonatology, Medizinische Hochschule HannoverCFTR Biomarker Center, Christiane-Herzog-Zentrum für Mukoviszidose, Charité Universitätsmedizin Berlin
  • , Inez BronsveldAffiliated withDepartment of Pulmonology and Tuberculosis, University Medical Center Utrecht
  • , Jean Paul ClancyAffiliated withDepartment of Pediatrics, University of Alabama

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Abstract

Cystic fibrosis (CF) is caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR functions as an anion channel and is known to interact with a number of other cellular proteins involved in ion transport. To date more than 1,800 mutations are known, most of which result in various degrees of impaired transport function of the gene product. Due to the high inter-individual variability of disease onset and progression, CF still is a diagnostic challenge. Implemented almost 20 years ago, the measurement of electrolyte transport function of rectal biopsies is a useful ex vivo tool to diagnose CF. In this chapter we will review the different approaches to perform ion transport measurements and try to highlight the advantages and limitations of these techniques.

Key words

Epithelial cells cystic fibrosis CFTR Ussing chamber electrolyte transport