“Our findings suggest that treating the whole body, not just the nerves, could improve the health, quality of life and survival of people with SMA.”- Dr. Rashmi KotharyTreating a patient’s entire body, not just the nerves in their muscles, is essential for the complete treatment of spinal muscular atrophy (SMA), according to a study led by Aoife Reilly in Dr. Rashmi Kothary’s group.
Patients with SMA have debilitating muscle weakness caused by depletion of the SMN protein, and their heart, liver, pancreas, immune system and digestive systems may also be affected. Thankfully, new therapies that restore the SMN gene can dramatically improve their outcomes. However, it’s unclear which delivery route is best; through the blood stream or directly through the spinal cord.
The research team found that both methods improved survival, weight, movement ability, and other organ symptoms in SMA mice. Delivery through the spinal cord modestly increased SMN levels in the body, while delivery through the blood stream restored the protein to normal levels outside the central nervous system.
This suggests that restoring SMN to multiple tissues is important for the treatment of the full-body effects of this disease. See Gene Therapy for details.
“Our findings suggest that treating the whole body, not just the nerves, could improve the health, quality of life and survival of people with SMA.”- Dr. Rashmi Kothary
Authors: Aoife Reilly, Marc-Olivier Deguise, Ariane Beauvais, Rebecca Yaworski, Simon Thebault, Daniel R. Tessier, Vincent Tabard-Cossa, Niko Hensel, Bernard L. Schneider & Rashmi Kothary
Funding: This research was supported by the Muscular Dystrophy Association, Muscular Dystrophy Canada, Canadian Institutes of Health Research, University of Ottawa Brain and Mind Institute, and enabled by generous donors to The Ottawa Hospital Foundation.
Core Resources: Animal Behaviour and Physiology Core, Cell Biology and Image Acquisition Core
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