Vancouver- October 3, 2001: An international team of scientists led by Canadian Genetic Diseases Network researchers, Dr. Joh-E Ikeda and Dr. Michael Hayden, has identified a gene which causes a childhood form of familial amyotrophic lateral sclerosis (ALS). ALS is the most prevalent adult-onset neurological disorder after Alzheimer’s and Parkinson’s disease, manifesting with selective loss of motor neurons in the brain and spinal cord. ALS is also commonly known as ‘Lou Gehrig's disease’ in memory of the famous American baseball player who died of it in 1941.

Dr. Joh-E Ikeda is Scientific Director of NeuroGenes International Cooperative Project under the auspices of the Japan Science and Technology Corporation (JSTC) and is based at Tokai University, Japan and the University of Ottawa. Dr. Michael Hayden is Scientific Director of the Canadian Genetic Diseases Network (CGDN) and Director of the Centre for Molecular Medicine and Therapeutics in Vancouver. Members of their collaborative research team are based in Japan, Canada, Britain, Israel and the USA.

Familial ALS accounts for 5-10% of ALS cases where there is a family history. Genetic studies on familial ALS demonstrate that several gene mutations are involved in causing the disease, the first of which was found in 1993. Since then, no further genes had been discovered until Drs. Ikeda and Hayden et al. identified the new familial gene called ALS2CR6. Results of the study were published online today in the leading scientific journal Nature Genetics.

ALS is a progressive neuromuscular condition characterized by weakness, muscle wasting, and increased reflexes. The disease is most commonly diagnosed in middle age and affects more men than women. It usually presents with problems in dexterity or gait resulting from muscle weakness. Death commonly occurs within five years of diagnosis and is attributed to respiratory failure or physical wasting.

Drs. Ikeda, Hayden and colleagues found that ALS2CR6 is expressed in various tissues and cells of the human body, including neurons throughout the brain and spinal cord. Furthermore, mutations in the gene cause a loss of function of an essential protein which might lead to selective neuronal cell death, the causative factor in familial ALS and an important issue to be addressed in ongoing research. Said Dr. Ikeda, ‘Currently, the cause of ALS is unknown and there is no cure or proven therapy for the disease. However, our next step in understanding it is to analyse the normal function of the ALS2CR6 gene through the use of animal models.’

Dr. Michael Hayden said ‘These most recent findings on familial ALS are an excellent example of the success of collaborative team work among Dr. Ikeda and I and our groups, and members and alumni of the Canadian Genetic Diseases Network (Dr. Shinji Hadano of Tokai University, Dr. Guy Rouleau of McGill University, Dr. Stephen Scherer and Jennifer Skaug of Toronto’s Hospital for Sick Children and Dr. Jamal Nasir of University of Sheffield). At CGDN, collaborations are pivotal to our mandate as evidenced by our partnership with the NeuroGene project and JST which originally launched this research in 1996.’ Dr. Hayden added that this finding will be the starting point for significant additional research which will identify how and why changes in this gene lead to ALS.