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 Investigators may unlock mystery of how staph cells dodge the body's immune system
22.09.2017 | Cedars-Sinai Medical Center

nachricht Monitoring the heart's mitochondria to predict cardiac arrest?
21.09.2017 | Boston Children's Hospital

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: The pyrenoid is a carbon-fixing liquid droplet

Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.

A warming planet

Im Focus: Highly precise wiring in the Cerebral Cortex

Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.

The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...

Im Focus: Tiny lasers from a gallery of whispers

New technique promises tunable laser devices

Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...

Im Focus: Ultrafast snapshots of relaxing electrons in solids

Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!

When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...

Im Focus: Quantum Sensors Decipher Magnetic Ordering in a New Semiconducting Material

For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.

Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

“Lasers in Composites Symposium” in Aachen – from Science to Application

19.09.2017 | Event News

I-ESA 2018 – Call for Papers

12.09.2017 | Event News

EMBO at Basel Life, a new conference on current and emerging life science research

06.09.2017 | Event News

 
Latest News

Rainbow colors reveal cell history: Uncovering β-cell heterogeneity

22.09.2017 | Life Sciences

Penn first in world to treat patient with new radiation technology

22.09.2017 | Medical Engineering

Calculating quietness

22.09.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>