Findings could improve quality of life for people with spinal muscular atrophy

September 10, 2019

"Now that we know people with SMA could be at higher risk of cardiovascular and liver disease, physicians can help them prevent and treat these conditions,” said Dr. Rashmi KotharyPeople with spinal muscular atrophy (SMA) could be at higher risk of cardiovascular and liver disease, according to the most comprehensive study to date. This means that screening for these conditions, establishing nutritional guidelines, and personalizing therapies could help improve quality of life in patients. The international study led by graduate student Marc-Olivier Deguise in Dr. Rashmi Kothary’s group found that one-third of 72 patients with various forms of SMA had abnormal blood cholesterol and lipid levels, which can lead to heart disease, heart attack or stroke. They also found fat accumulating in human SMA liver samples. Mouse models of SMA had similar problems. SMA was traditionally thought only to affect the nerves controlling the muscles. However, researchers have found that it also affects cells in other areas like the immune system. It is important to look at these other aspects of SMA because with new drugs patients are expected to live longer, and may experience more symptoms from these chronic conditions.

"Now that we know people with SMA could be at higher risk of cardiovascular and liver disease, physicians can help them prevent and treat these conditions,” said Dr. Kothary, senior scientist at The Ottawa Hospital and professor at the University of Ottawa.

Authors: Marc-Olivier Deguise, Giovanni Baranello, Chiara Mastella, Ariane Beauvais, Jean Michaud, Alessandro Leone, Ramona De Amicis, Alberto Battezzati, Christopher Dunham, Kathryn Selby, Jodi Warman Chardon, Hugh J. McMillan, Yu-Ting Huang, Natalie L. Courtney, Alannah J. Mole, Sabrina Kubinski, Peter Claus, Lyndsay M. Murray, Melissa Bowerman, Thomas H. Gillingwater, Simona Bertoli, Simon H. Parson, Rashmi Kothary

Source: Annals of Clinical and Translational Neurology

Core Resources: Imaging

Funders: Cure SMA/Families of SMA Canada, Muscular Dystrophy Association, Canadian Institutes of Health Research, Italian Association of SMA Families, Fondazione Telethon, Cure SMA, Fight SMA, Muscular Dystrophy Association, Newlife foundation for disabled children, UK SMA Research Consortium, SMA Europe, Tenovus, The Euan Macdonald Centre for Research into Motor Neurone Diseases, SMA Angels Charity, National Institutes of Health. Researchers at The Ottawa Hospital are also supported by generous donations to the hospital.

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: —A crossroads of cultures and ideas

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.

Media Contact

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