U of G Researchers Develop Model to Aid in Treating Rare Disease
December 07, 2005 - News Release
Researchers at the University of Guelph have developed a new model they hope will help in the development of treatments for Friedreich’s ataxia, a rare genetic disorder affecting about one in every 50,000 people that normally kills by early adulthood.
Prof. John Phillips, a fruit fly geneticist in the Department of Molecular and Cellular Biology, and PhD candidate Peter Anderson published an article in the October issue of Human Molecular Genetics on the first-ever fruit fly model for studying the neurodegenerative disease.
People with Friedreich’s ataxia have severely reduced amounts of frataxin, a protein that normally helps to control iron distribution in tissues. They also have excess iron in their blood. In the U of G model, fruit flies make reduced amounts of this frataxin protein as in human patients. Phillips and Anderson genetically altered the flies’ frataxin gene, which had a dramatic and unexpected effect on the flies’ life cycle.
Phillips stresses that they’re not actually witnessing human ataxia symptoms in the flies. What’s important, he said, is that the flies offer an experimental model in which changes may be traced to the mutated gene. It may give other researchers and clinicians a new tool to study treatments such as nutrition or other environmental factors, he said.
“It would be naive to say we’re going to find a cure for Friedreich’s ataxia. We’d be happy to identify other genes that would improve lives and that would give ideas of therapeutic interventions.”
People normally develop Friedreich’s ataxia between the ages of five and 15 and are usually wheelchair-bound within 20 years of showing the first symptoms. The inherited neurodegenerative disorder causes progressive muscle weakness and loss of co-ordination in the limbs, vision and hearing impairments, spine curvature and serious heart disease. There is currently no cure.
Last year, Phillips was contacted by Brent Moore, a 34-year-old U of G grad who was diagnosed with the disease in 1991 during his first year of studies at Guelph. Moore, who has been confined to a wheelchair for the past five years, learned of Phillips and Anderson’s work while at an ataxia conference in Georgia. After reading again about the U of G research in a magazine published by the National Ataxia Foundation based in Minnesota, he called Phillips.
“I thought it’d be good for both of us,” said Moore, who lives in Ayr, Ont. “He and Peter could put a person to the fruit fly. The fruit flies may seem trivial to some, but John and Peter could help a lot of people.” Moore, who plans to return to school next year, added: “I’m optimistic about the future and not sitting around waiting for a cure. I’m going ahead and living my life. But if a treatment comes along — great.”
Contact:
Prof. John Phillips
Department of Molecular and Cellular Biology
(519) 824-4120, Ext. 52796
jphillip@uoguelph.ca
For media questions, contact Communications and Public Affairs: Lori Bona Hunt, (519) 824-4120, Ext. 53338, or Rebecca Kendall, Ext. 56982.
