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.
journal_name
Nat Medjournal_title
Nature medicineauthors
Howard M,Frizzell RA,Bedwell DMdoi
10.1038/nm0496-467subject
Has Abstractpub_date
1996-04-01 00:00:00pages
467-9issue
4eissn
1078-8956issn
1546-170Xjournal_volume
2pub_type
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