Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researcher looks for clues to mysterious disease

24.09.2004


Few have heard of the degenerative, deadly disease called Ataxia-telangiectasia (A-T) but a University of Alberta researcher is hoping to provide clues to this mysterious disorder.

Dr. Shelagh Campbell, from the U of A’s Department of Biological Sciences, is a basic researcher who studies how normal cell cycles are regulated, by analyzing genes that are responsible for repairing DNA damage that offer insights into human diseases like cancer and A-T. A-T is a progressive, degenerative disease that affects a startling number of body systems. Children with A-T appear normal at birth but at around the age of two, some of the first signs--walking and balance is wobbly caused by ataxia or lack of muscle control--start appearing. "Kids are often misdiagnosed with cerebral palsy but what distinguishes A-T is it gets worse," said Campbell. "Sadly, many of the people with A-T end up in wheelchairs and most die young (I think there is a fair range).

Soon after the onset of A-T, children lose their ability to write and speech becomes slow and slurred. Reading eventually becomes impossible because eye movements are too hard to control. Other features of the debilitating disease include mild diabetes, premature graying of the hair, difficulty swallowing causing choking and drooling and slowed growth. Children with A-T also tend to be more predisposed to developing cancer. Ironically, the disease carries with it sensitivity to radiation, which means A-T patients cannot tolerate the therapeutic radiation usually given to cancer patients.



That’s where Campbell hopes to apply her work. Scientists already know that the A-T protein (ATM) is fundamental to repairing DNA damage so she and her research team are studying ATM mutants, which behave as cells do when they are damaged.

In a recent issue of the journal, "Current Biology," Campbell describes how they examined ATM mutants for signs of locomotor defects in mutant and control flies and found the average climbing ability to be lower for the mutant males. Aside from locomotor defects, the mutants recapitulated major symptoms of the disease, A-T, including sensitivity to ionizing radiation and chromosome instability. "If you want to study a conserved biological process, it makes sense to do it in a system where you can do all these genetic tricks," said Campbell of being able to create mutant proteins and manipulate such factors as temperature. "We have an excellent model for investigating the basic mechanisms of chromosome structural maintenance involving ATM, allowing us to study how ATM works in a meaningful developmental context."

Although a cure seems to be a long way off, using this system to understand more about how ATM works will offer more clues to treating the disease, said Campbell. "There are some serious efforts being made for treatment of A-T and what we learn may also make it easier to screen for known carriers," she said. "My hope is by fully understanding how ATM functions, at least we can look at improving the quality of life for those unfortunate to receive mutant alleles from both their parents. That’s the million dollar question--how does ATM work, and we’re slowly getting closer to understanding it."

Phoebe Dey | EurekAlert!
Further information:
http://www.ualberta.ca

More articles from Life Sciences:

nachricht The birth of a new protein
20.10.2017 | University of Arizona

nachricht Building New Moss Factories
20.10.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Terahertz spectroscopy goes nano

20.10.2017 | Information Technology

Strange but true: Turning a material upside down can sometimes make it softer

20.10.2017 | Materials Sciences

NRL clarifies valley polarization for electronic and optoelectronic technologies

20.10.2017 | Interdisciplinary Research

VideoLinks
B2B-VideoLinks
More VideoLinks >>>