Breakthrough in crippling childhood disease Friedreich's ataxia

University of Sydney scientists have made a breakthrough that could lead to new treatments for the crippling childhood disease Friedreich's ataxia.

Although relatively uncommon, Friedreich's ataxia is a devastating neuro- and cardio-degenerative disease that leaves children wheelchair bound by their teens and leads to early death due to heart problems.

"In people with Friedreich's ataxia there is an accumulation of toxic iron in the mitochondrion* and it is thought that this may play a role in the development of the disease" said Dr Des Richardson, Professor of Cancer Cell Biology.

"Our paper for the first time demonstrates the processes responsible for the iron loading, and opens up the possibility of developing drug treatments that target the toxic iron accumulation to remove it. In fact, using novel drugs that remove the toxic iron, we were able to demonstrate that they could prevent some heart complications in an animal model of Friedreich's ataxia."

Friedreich's ataxia is a rare genetically inherited disease that affects males and females equally. Symptoms include severe problems with coordination and walking. The well known New York-based Australian artist Theresa Byrnes suffers from this disease.

These latest research findings have just been published in the prestigious journal Proceedings of the National Academy of Sciences (USA). "This paper is a very important development in the understanding and treatment of Friedreich's ataxia," said Megan Whitnall, the lead author of the article and a PhD student at the University.

"Our study examines the actual reason for why the disease develops and also examines the potential of a new therapy to prevent the disease."

Further studies are underway to investigate the effectiveness of the new drugs in preventing the neurodegenerative aspect of the disease.