Gentamicin-Induced Correction of CFTR Function in Patients with Cystic Fibrosis andCFTRStop Mutations
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Open Access
- 9 October 2003
- journal article
- clinical trial
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 349 (15) , 1433-1441
- https://doi.org/10.1056/nejmoa022170
Abstract
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene containing a premature termination signal cause a deficiency or absence of functional chloride-channel activity. Aminoglycoside antibiotics can suppress premature termination codons, thus permitting translation to continue to the normal end of the transcript. We assessed whether topical administration of gentamicin to the nasal epithelium of patients with cystic fibrosis could result in the expression of functional CFTR channels.Keywords
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