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 One step closer to reality
20.04.2018 | Max-Planck-Institut für Entwicklungsbiologie

nachricht The dark side of cichlid fish: from cannibal to caregiver
20.04.2018 | Veterinärmedizinische Universität Wien

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Spider silk key to new bone-fixing composite

University of Connecticut researchers have created a biodegradable composite made of silk fibers that can be used to repair broken load-bearing bones without the complications sometimes presented by other materials.

Repairing major load-bearing bones such as those in the leg can be a long and uncomfortable process.

Im Focus: Writing and deleting magnets with lasers

Study published in the journal ACS Applied Materials & Interfaces is the outcome of an international effort that included teams from Dresden and Berlin in Germany, and the US.

Scientists at the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) together with colleagues from the Helmholtz-Zentrum Berlin (HZB) and the University of Virginia...

Im Focus: Gamma-ray flashes from plasma filaments

Novel highly efficient and brilliant gamma-ray source: Based on model calculations, physicists of the Max PIanck Institute for Nuclear Physics in Heidelberg propose a novel method for an efficient high-brilliance gamma-ray source. A giant collimated gamma-ray pulse is generated from the interaction of a dense ultra-relativistic electron beam with a thin solid conductor. Energetic gamma-rays are copiously produced as the electron beam splits into filaments while propagating across the conductor. The resulting gamma-ray energy and flux enable novel experiments in nuclear and fundamental physics.

The typical wavelength of light interacting with an object of the microcosm scales with the size of this object. For atoms, this ranges from visible light to...

Im Focus: Basel researchers succeed in cultivating cartilage from stem cells

Stable joint cartilage can be produced from adult stem cells originating from bone marrow. This is made possible by inducing specific molecular processes occurring during embryonic cartilage formation, as researchers from the University and University Hospital of Basel report in the scientific journal PNAS.

Certain mesenchymal stem/stromal cells from the bone marrow of adults are considered extremely promising for skeletal tissue regeneration. These adult stem...

Im Focus: Like a wedge in a hinge

Researchers lay groundwork to tailor drugs for new targets in cancer therapy

In the fight against cancer, scientists are developing new drugs to hit tumor cells at so far unused weak points. Such a “sore spot” is the protein complex...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

IWOLIA: A conference bringing together German Industrie 4.0 and French Industrie du Futur

09.04.2018 | Event News

 
Latest News

Magnetic nano-imaging on a table top

20.04.2018 | Physics and Astronomy

Start of work for the world's largest electric truck

20.04.2018 | Interdisciplinary Research

Atoms may hum a tune from grand cosmic symphony

20.04.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>