Research helps unravel complex genetics of Spinal Muscular Atrophy

September 21, 2016

Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by mutations or deletions in the SMN1 gene. However, some people with the exact same mutations suffer much more severe symptoms than others. New research led by Dr. Rashmi Kothary’s group, published in Human Molecular Genetics, supports the theory that other genes also play an important role in this disease. The team compared SMA animal models from two different genetic backgrounds, and found animals from one background lived longer, lost weight at a slower rate, and developed muscle weakness and muscle nerve loss in the spinal cord at a later age. The difference seems to be linked to a gene called Pls3, but other genes likely play a role well. Identifying these could provide new targets for drug development.

Authors: Mehdi Eshraghi, Emily McFall, Sabrina Gibeault, Rashmi Kothary

Funders:Cure SMA/Families of SMA Canada, Muscular Dystrophy Association, Canadian Institutes of Health Research

The Ottawa Hospital: Inspired by research. Driven by compassion

The Ottawa Hospital is one of Canada’s largest learning and research hospitals with over 1,100 beds, approximately 12,000 staff and an annual budget of over $1.2 billion. Our focus on research and learning helps us develop new and innovative ways to treat patients and improve care. As a multi-campus hospital, affiliated with the University of Ottawa, we deliver specialized care to the Eastern Ontario region, but our techniques and research discoveries are adopted around the world. We engage the community at all levels to support our vision for better patient care. See for more information about research at The Ottawa Hospital.

University of Ottawa

The University of Ottawa is home to over 50,000 students, faculty and staff, who live, work and study in both French and English. Our campus is a crossroads of cultures and ideas, where bold minds come together to inspire game-changing ideas. We are one of Canada’s top 10 research universities—our professors and researchers explore new approaches to today’s challenges. One of a handful of Canadian universities ranked among the top 200 in the world, we attract exceptional thinkers and welcome diverse perspectives from across the globe.

For further information, please contact

Amelia Buchanan
Senior Communication Specialist
Ottawa Hospital Research Institute
Office: 613-798-5555 x 73687
Cell: 613-297-8315