Zebrafish provide answers to the cause of ALS

ALS Canada-funded research continuing to turn up positive results

MARKHAM, ON, June 4, 2013 /CNW/ - Canadian researcher Edor Kabashi of the Université de Montréal has developed the first animal model to study the function of a gene responsible for the highest percentage of ALS, commonly known as Lou Gehrig's disease. Results to date shed light on the cause of the devastating disease.

"Our results indicate that normal levels of a gene called C9ORF72 are crucial for the proper motor function of zebrafish, and loss of its function causes neurodegeneration," explains Dr. Kabashi.

This is vital information, as ALS is caused by the death of motor neurons connecting the brain to the muscles. While the specific causes of ALS have eluded scientists for years, the announcement from Dr. Kabashi represents an important step forward, in hopes of finding new therapies and someday, a cure.

"Canadian researchers are recognized internationally for discoveries that further our understanding of ALS," said Lindee David, CEO, ALS Canada. "It is a promising time for the ALS community. We are proud to support their work and are excited by Dr. Kabashi's findings."

First ever published animal model to study the function of gene C9ORF72

In 2011, two international consortia identified that mutations in C9ORF72 cause a higher percentage of familial and sporadic ALS than any other gene previously discovered. It was determined that the mutation makes up approximately one-third of all familial cases of ALS.

Following the important discovery, Dr. Kabashi and Dr. Pierre Drapeau, also of Université de Montréal, were co-awarded the ALS Canada-funded Bernice Ramsay Discovery Grant to create zebrafish models of reduced and mutated C9ORF72. The purpose was to determine the gene's role in motor function and ability to cause neurodegeneration. Initial results from the research have recently been accepted for publication in the prestigious journal Annals of Neurology.

"To validate whether normal levels and/or function of C9ORF72 is essential for motor neuron health and activity, we developed an animal model to observe disease presentation in zebrafish," said Dr. Kabashi "We observed clear motor dysfunction, swimming defects, and abnormalities at the cellular level."

"Our hope is that these new animal models of ALS will help identify new avenues for therapy. Many more cellular and animal models of C9ORF72 are currently being studied and we look forward to continued exciting discoveries in what promises to be another breakthrough year for ALS research." added David.

About ALS
ALS is a terminal disease characterized by progressive paralysis of muscles throughout the body. Ninety percent of ALS patients die within five years of diagnosis and some in less than one. An estimated 3,000 Canadians have the disease, yet there are currently no effective treatment options. ALS is caused by death of motor neurons, which connect the brain to the muscles. While the specific cause remains unknown, promising discoveries in recent years have provided significant clues that should pave the way for new therapies and an eventual cure.

About ALS Canada
The ALS Society of Canada, founded in 1977, is the only national voluntary health organization dedicated solely to the fight against ALS and support for those with ALS.  ALS Canada is the leading not-for-profit organization working nationwide to fund ALS research and, with the Provincial ALS Societies, working to improve the quality of life for Canadians affected by ALS.


For further information:

Nic Canning

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ALS Canada

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