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 Electrical 'switch' in brain's capillary network monitors activity and controls blood flow
27.03.2017 | Larner College of Medicine at the University of Vermont

nachricht Laser activated gold pyramids could deliver drugs, DNA into cells without harm
24.03.2017 | Harvard John A. Paulson School of Engineering and Applied Sciences

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: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

Im Focus: Researchers Imitate Molecular Crowding in Cells

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

Northern oceans pumped CO2 into the atmosphere

27.03.2017 | Earth Sciences

Fingerprint' technique spots frog populations at risk from pollution

27.03.2017 | Life Sciences

Big data approach to predict protein structure

27.03.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>