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Nat Med. 1996 Apr;2(4):467-9.

Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations.

Author information

1
Department of Physiology, University of Alabama at Birmingham, 35294, USA.

Abstract

Cystic fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR). A single recessive mutation, the deletion of phenylalanine 508 (deltaF508), causes severe CF and resides on 70% of mutant chromosomes. Severe CF is also caused by premature stop mutations, which are found on 5% of CF chromosomes. Here we report that two common, disease-associated stop mutations can be suppressed by treating cells with low doses of the aminoglycoside antibiotic G-418. Aminoglycoside treatment resulted in the expression of full-length CFTR and restored its cyclic AMP-activated chloride channel activity. Another aminoglycoside, gentamicin, also promoted the expression of full-length CFTR. These results suggest that treatment with aminoglycosides may provide a means of restoring CFTR function in patients with this class of mutation.

PMID:
8597960
DOI:
10.1038/nm0496-467
[Indexed for MEDLINE]

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