Dr. Rashmi Kothary’s team. “Our study suggests that treating the liver may be just as important as treating the neuromuscular system in patients with SMA,” says Dr. Kothary. “This is important because some of the approved SMA therapies are better at reaching the liver than others.”Families affected by spinal muscular atrophy (SMA) have seen many breakthroughs in recent years, with genetically targeted treatments greatly increasing the survival of affected children. This has opened a new field of research which aims to improve health and quality of life in patients with SMA.
Dr. Rashmi Kothary’s team at The Ottawa Hospital and the University of Ottawa has led the way in this area of research, with multiple studies pointing to the importance of a whole-body approach to treating SMA. While the Survival Motor Neuron (SMN) protein, which is responsible for SMA, plays a key role in neuron function, it is actually expressed in many different cells in the body.
The Kothary group’s latest study, published in eBioMedicine, tested a targeted gene therapy that increases the expression of SMN specifically in the liver in a mouse model of SMA. The treatment greatly improved survival and function, even though it never reached the neuromuscular system, where most symptoms are thought to originate.
“Our study suggests that treating the liver may be just as important as treating the neuromuscular system in patients with SMA,” said Dr. Kothary, senior scientist at The Ottawa Hospital and professor at the University of Ottawa. “This is important because some of the approved SMA therapies are better at reaching the liver than others.”
Authors: Sutton ER, Beauvais A, Yaworski R, De Repentigny Y, Reilly A, Alves de Almeida MM, Deguise MO, Poulin KL, Parks RJ, Schneider BL, Kothary R.
Cores: Animal Behaviour and Physiology, Histology, Imaging
Funding: Muscular Dystrophy Association (USA), Canadian Institutes of Health Research, University of Ottawa Brain and Mind Research Institute
The Ottawa Hospital is a leading academic health, research and learning hospital proudly affiliated with the University of Ottawa and supported by The Ottawa Hospital Foundation.
