Newsroom

Researchers investigate role of immune system in Spinal Muscular Atrophy


February 1, 2017


Surprising new research has found that spinal muscular atrophy, traditionally thought of as a neuromuscular disease, may also affect the immune system. SMA is the number one genetic cause of death in infants, and is caused by the lack of a protein called SMN. In a research published in Human Molecular Genetics, Dr. Rashmi Kothary’s group found that mouse models of the disease had dramatically smaller spleens with an abnormal inner structure. The spleen is an important part of the immune system that removes bacteria and viruses from the blood. In addition, the researchers saw that SMA impaired the development of white blood cells called T-cells in the thymus. The team found that they could prevent these defects from happening in mouse models of SMA by genetically introducing a human SMN gene. Further research is required to see if these immune defects exist in SMA patients, and what the implications may be for treatment.

Authors: Deguise MO, De Repentigny Y, McFall E, Auclair N, Sad S, Kothary R

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 www.ohri.ca 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. www.uottawa.ca

For further information, please contact


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

 

Disease and research area tags: Brain and neuromuscular disease, Spinal muscular atrophy