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Gentamycin May Correct Some Genetic Mutations In Cystic Fibrosis
A DGReview of :"Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations"
New England Journal of Medicine (NEJM)
10/15/2003
Martha Kerr
The aminoglycoside antibiotic gentamycin appears to restore the deficiency or absence of chloride channel activity caused by stop mutations in the cystic transmembrane conductance regulator (CTCR) seen in patients with cystic fibrosis (CF), report researchers in Israel.
Dr. Michael Wilschanski and associates at the Cystic Fibrosis Center of Shaare Zedek Medical Center in Jerusalem, Israel, conducted a double-blind, placebo-controlled crossover trial of CF patients with stop mutations in the CFTR gene or patients carrying the deltaF508 mutation. There were 11 patients homozygous for CFTR stop mutations, 8 patients were heterozygous for CFTR stop mutations and 5 patients homozygous for the delta508 mutation.
Patients received gentamycin in each nostril 3 times a day for 2 consecutive 14-day periods. Total daily gentamycin dose was 900 micrograms.
Active treatment "caused a significant reduction in basal potential difference in the 19 patients carrying stop mutations - and a significant response to chloride-free isoproterenol solution," Dr. Wilschanski and colleagues report. A significant response occurred in both homozygous and heterozygous carriers of the CFTR mutations but homozygous carriers of the delta508 mutation did not respond to treatment.
The authors say the genetic correction of CFTR mutation through nasal inhalation of gentamycin should translate to a clinical response in symptoms in patients with CF, but more studies are needed.
NEJM 2003;349:1433-1441.
"Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations"
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