Featured Research

from universities, journals, and other organizations

New Clues To Gene Expression In Cystic Fibrosis

Date:
March 30, 2007
Source:
BioMed Central
Summary:
Genetics tests could help provide cystic fibrosis patients with targeted treatment in future, pilot study authors suggest. Results from a French clinical trial show how a small percentage of CF sufferers with a rare genetic stop mutation responded positively to gentamicin treatment.

Genetics tests could help provide cystic fibrosis (CF) patients with targeted treatment in future, pilot study authors suggest. Results from a French clinical trial published in BMC Medicine show how a small percentage of CF sufferers with a rare genetic stop mutation responded positively to gentamicin treatment.

Aleksander Edelman and Isabelle Sermet-Gaudelus of Faculté de Médicine Necker in Paris led collaborators from several French institutions studying how the antibiotic gentamicin affected CF patients with a stop mutation. The team used a dual reporter gene assay first in vitro and then in CF patients. The study found that a small subgroup of patients with the Y122X mutation, found mainly in inhabitants of Reunion island, responded to gentamicin treatment.

Cystic fibrosis is caused by mutations in the gene that encodes the Cystic Fibrosis Transmemrane Conductance Regulator (CFTR) protein. Over 1500 mutations have been described since this gene's discovery. Premature stop mutations, which includeY122X, are found in around 10% of CF patients. Gentamicin reversed stop codons in the Y122X gene, and helped restore the CFTR protein, improving patients' respiration.

Gentamicin itself may not be an ideal drug option, as it may cause serious side effects for some patients, including ear and kidney damage. The authors suggest that other drugs, such as amikacin or PTC124, with a comparable mode of action and fewer side effects, may have treatment potential. The in vitro method used to predict the trial's outcome could be a first step to developing treatments effective for patients with CF and other diseases where premature stop codons play a role.

Article: In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis. A pilot study. Isabelle Sermet-Gaudelus, Michel Renouil, Anne Fajac, Laure Bidou, Bastien Parbaille, Sébastien Pierrot, Nolwen Davy, Elise Bismuth, Philippe Reinert, Gérard Lenoir, Jean François Lesure , Jean Pierre Rousset, Aleksander Edelman. BMC Medicine (In press)


Story Source:

The above story is based on materials provided by BioMed Central. Note: Materials may be edited for content and length.


Cite This Page:

BioMed Central. "New Clues To Gene Expression In Cystic Fibrosis." ScienceDaily. ScienceDaily, 30 March 2007. <www.sciencedaily.com/releases/2007/03/070329075322.htm>.
BioMed Central. (2007, March 30). New Clues To Gene Expression In Cystic Fibrosis. ScienceDaily. Retrieved August 20, 2014 from www.sciencedaily.com/releases/2007/03/070329075322.htm
BioMed Central. "New Clues To Gene Expression In Cystic Fibrosis." ScienceDaily. www.sciencedaily.com/releases/2007/03/070329075322.htm (accessed August 20, 2014).

Share This




More Health & Medicine News

Wednesday, August 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola-Hit Sierra Leone's Freetown a City on Edge

Ebola-Hit Sierra Leone's Freetown a City on Edge

AFP (Aug. 19, 2014) — Residents of Sierra Leone's capital voice their fears as the Ebola virus sweeps through west Africa. Duration: 00:56 Video provided by AFP
Powered by NewsLook.com
101-Year-Old Working Man Has All The Advice You Need

101-Year-Old Working Man Has All The Advice You Need

Newsy (Aug. 19, 2014) — Herman Goldman has worked at the same lighting store for almost 75 years. Find out his secrets to a happy, productive life. Video provided by Newsy
Powered by NewsLook.com
Researcher Testing on-Field Concussion Scanners

Researcher Testing on-Field Concussion Scanners

AP (Aug. 19, 2014) — Four Texas high school football programs are trying out an experimental system designed to diagnose concussions on the field. The technology is in response to growing concern over head trauma in America's most watched sport. (Aug. 19) Video provided by AP
Powered by NewsLook.com
American Ebola Patient Apparently Improving, Outbreak Is Not

American Ebola Patient Apparently Improving, Outbreak Is Not

Newsy (Aug. 19, 2014) — Nancy Writebol, an American missionary who contracted Ebola, is apparently getting better, according to her husband. The outbreak, however, is not. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins