Cystic fibrosis (CF) is an autosomal recessive disease that greatly diminishes life span owing to impaired function of the lungs and intestinal epithelia. Although the F508 homozygous mutation in the anion channel protein cystic fibrosis transmembrane conductance regulator (CFTR) is commonly found in CF patients, the mechanisms by which this mutation causes disease are unclear. To investigate this issue in vivo, Ostedgaard et al. generated pigs homozygous for CFTR-F508. Unlike previously established mouse models of CF, CFTR-F508 pigs develop airway and intestinal disease that closely resembles human CF pathology. In vivo studies agreed with previous results carried out in cell culture systems, and showed that the F508 mutation causes CFTR misfolding and degradation, and the failure of the protein to localise at the apical surface of epithelial cells. CFTR-F508 pigs provide a relevant model to further investigate mechanisms of CF pathogenesis and for testing therapies that aim to increase CFTR activity.
- Written by editorial staff. © 2011. Published by The Company of Biologists Ltd.
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