New mouse model to reveal insights into mild spinal muscular atrophy

June 4, 2020

Dr. Rashmi Kothary,These mice will help us better understand milder forms of SMA and how it affects adults living with SMA.” - Dr. Rashmi Kothary,Dr. Marc-Olivier Deguise from Dr. Rashmi Kothary’s team has developed a new mouse model of mild spinal muscular atrophy (SMA)

Until now, researchers only had good animal models of the most severe forms of this disease. As a result, little was known about the biology of milder forms of the disease and how it impacts adults living with SMA. 

Mouse models of mild SMA did exist beforebut they only showed a few SMA features. This is the first mouse model to have most of the classical features of mild SMA. These mice have a normal lifespan and experience reduced weight, loss of motor strength, defects in how the nerves communicate with the musclesloss of nerve supply to the muscles and loss of muscle tissue. 

An interesting finding was that these symptoms are more common and more severe in male mice. Understanding how this milder form of the disease works is particularly important now as new drugs are expected to reduce symptoms and extend the lifespan of patients with severe forms of SMA 

These mice will help us better understand milder forms of SMA and how it affects adults living with SMA,” said Dr. Rashmi Kothary, Senior Scientist at The Ottawa Hospital and Professor at the University of Ottawa 

Authors: Marc-Olivier Deguise, Yves De Repentigny, Alexandra Tierney, Ariane Beauvais, Jean Michaud, Lucia Chehade, Mohamed Thabet, Brittany Paul, Aoife Reilly, Sabrina Gagnon, Jean-Marc Renaud, Rashmi Kothary  

Source: EBioMedicine 

Core resources: Imaging Facility 

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