New insight into nerve biology and rare disease

January 29, 2014

New research led by Dr. Rashmi Kothary is shedding light on the important role of the dystonin-a2 protein in keeping our nerves healthy. This research also adds to our understanding of a rare disease called HSAN-VI, which is lethal in infancy and is caused by a mutation in the dystonin gene. Dr. Kothary and his team used genetically engineered mice to tease out the overlapping roles of several different proteins produced from the dystonin gene, finding that the dystonin-a2 protein could significantly alleviate the symptoms of HSAN-VI in their mouse model. This research, published in Human Molecular Genetics, could also have implications for more common nerve disorders, which also have disruptions in pathways linked to dystonin.

Funders: Canadian Institutes of Health Research; Ontario Ministry of Training, Colleges and Universities (Ontario Graduate Scholarship Program); University of Ottawa

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The Ottawa Hospital Research Institute (OHRI) is the research arm of The Ottawa Hospital and is an affiliated institute of the University of Ottawa, closely associated with the university’s Faculties of Medicine and Health Sciences. OHRI includes more than 1,700 scientists, clinical investigators, graduate students, postdoctoral fellows and staff conducting research to improve the understanding, prevention, diagnosis and treatment of human disease.

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