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| Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations |
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| Author(s): Howard M, Frizzell DM, Bedwell DM |
| Source: NATURE MEDICINE Volume: 2 Issue: 4 Pages: 467-469 Published: APR 1996 |
| Times Cited: 171 References: 20 |
| 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 (Delta F508), 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 CF patients with this class of mutation. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV ALABAMA, DEPT MICROBIOL, BIRMINGHAM, AL 35294 USA
2. UNIV ALABAMA, DEPT PHYSIOL, BIRMINGHAM, AL 35294 USA
3. UNIV ALABAMA, DEPT BIOPHYS, BIRMINGHAM, AL 35294 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology; Medicine, Research & Experimental |
| IDS Number: UD314 |
| ISSN: 1078-8956 |
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