Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New Drug May Treat Cystic Fibrosis, Other Diseases Caused by “Nonsense Mutations"

27.04.2010
Inherited diseases such as cystic fibrosis can be caused by genetic "nonsense mutations" that disrupt the way human cells make proteins. David Bedwell, Ph.D., a professor in the University of Alabama at Birmingham (UAB) Department of Microbiology, says scientists are now closer to producing drugs that will fix this disruption and drastically improve treatment of genetic disease.

Bedwell is a renowned researcher on the select group of genetic alterations called nonsense mutations - DNA alterations that can lead to nonfunctional or missing proteins. He presented recent findings on an experimental drug that may help to treat some cystic fibrosis patients during the Experimental Biology 2010 conference in Anaheim, Calif., April 26. This drug ataluren (formerly called PTC124) also holds promise in treating more than 2,400 different genetic disorders caused by nonsense mutations.

"When you treat a genetic disease, the bottom line is how much of the missing protein do you need to restore to have a therapeutic benefit," Bedwell says. "It comes down to the threshold of protein rescue. For some diseases, it might be 1 percent of protein you need restored, and for other diseases you may need 50 percent of protein restored."

In Bedwell's most well-known study, ataluren restored up to 29 percent of normal protein function in mice with cystic fibrosis. Another researcher not affiliated with UAB has reported ataluren restored up to 25 percent of the missing or abnormal protein function in mice with Duchenne muscular dystrophy.

An estimated one-third of gene defects responsible for human disease are thought to come from nonsense mutations. In the case of cystic fibrosis, the absence of a certain protein leads to an imbalance of salt and water in the linings of the lungs and other membranes. The UAB study showed that ataluren allowed the protein to be made in mouse cells where it was previously absent, and it helped the body's regulatory system to restore salt and water balance in the membrane.

Bedwell says the true promise of drugs that suppress nonsense mutations is their selectiveness, meaning the drugs work well in fixing disease-causing mutations while generally sparing healthy genes.

Ataluren is now being tested in humans for its effectiveness in treating Duchenne/Becker muscular dystrophy, cystic fibrosis, hemophilia A, hemophilia B and other conditions. The agent works in an oral form.

The research is a partnership with Bedwell and UAB's Gregory Fleming James Cystic Fibrosis Research Center. It is funded by PTC Therapeutics Inc. with assistance from the National Institutes of Health.

Editor's Note: Bedwell reports a consulting relationship with ataluren-maker PTC Therapeutics.

About the UAB Department of Microbiology

Known for its innovative and interdisciplinary approach to research, training and education, the UAB Department of Microbiology is a world leader in microbial genetics, pathogenesis, immunology and virology.

Media Contact:
Troy Goodman
(205) 934-8938
tdgoodman@uab.edu

Troy Goodman | EurekAlert!
Further information:
http://www.uab.edu

More articles from Health and Medicine:

nachricht Serious children’s infections also spreading in Switzerland
26.07.2017 | Universitätsspital Bern

nachricht New vaccine production could improve flu shot accuracy
25.07.2017 | Duke University

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Carbon Nanotubes Turn Electrical Current into Light-emitting Quasi-particles

Strong light-matter coupling in these semiconducting tubes may hold the key to electrically pumped lasers

Light-matter quasi-particles can be generated electrically in semiconducting carbon nanotubes. Material scientists and physicists from Heidelberg University...

Im Focus: Flexible proximity sensor creates smart surfaces

Fraunhofer IPA has developed a proximity sensor made from silicone and carbon nanotubes (CNT) which detects objects and determines their position. The materials and printing process used mean that the sensor is extremely flexible, economical and can be used for large surfaces. Industry and research partners can use and further develop this innovation straight away.

At first glance, the proximity sensor appears to be nothing special: a thin, elastic layer of silicone onto which black square surfaces are printed, but these...

Im Focus: 3-D scanning with water

3-D shape acquisition using water displacement as the shape sensor for the reconstruction of complex objects

A global team of computer scientists and engineers have developed an innovative technique that more completely reconstructs challenging 3D objects. An ancient...

Im Focus: Manipulating Electron Spins Without Loss of Information

Physicists have developed a new technique that uses electrical voltages to control the electron spin on a chip. The newly-developed method provides protection from spin decay, meaning that the contained information can be maintained and transmitted over comparatively large distances, as has been demonstrated by a team from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute. The results have been published in Physical Review X.

For several years, researchers have been trying to use the spin of an electron to store and transmit information. The spin of each electron is always coupled...

Im Focus: The proton precisely weighted

What is the mass of a proton? Scientists from Germany and Japan successfully did an important step towards the most exact knowledge of this fundamental constant. By means of precision measurements on a single proton, they could improve the precision by a factor of three and also correct the existing value.

To determine the mass of a single proton still more accurate – a group of physicists led by Klaus Blaum and Sven Sturm of the Max Planck Institute for Nuclear...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

Closing the Sustainability Circle: Protection of Food with Biobased Materials

21.07.2017 | Event News

»We are bringing Additive Manufacturing to SMEs«

19.07.2017 | Event News

 
Latest News

Large-Mouthed Fish Was Top Predator After Mass Extinction

26.07.2017 | Earth Sciences

Getting closer to porous, light-responsive materials

26.07.2017 | Materials Sciences

Large, distant comets more common than previously thought

26.07.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>