Targeting muscle stem cells for the treatment of Collagen VI muscular dystrophies
Awardee: Nicholas Dumont
Institution: CHU Sainte-Justine research center (University of Montreal)
Award Amount: $42,406
Funding Period: February 1, 2021 - January 31, 2022
Summary:
Mutations in one of the genes encoding for Collagen VI cause Ullrich muscular dystrophy (severe form) or Bethlem myopathy (milder form). These rare genetic diseases are characterized by progressive muscle weakness and degeneration, which can lead to functional incapacities such as impaired or delayed walking. The effect of collagen VI deficiency on muscle degeneration has been characterized; however, its impact on muscle stem cells, the engine of muscle repair, is unknown. Therefore, the overall goal of this project is to investigate if the myogenesis capacity (formation of new muscle tissue) of muscle stem cells is affected by the lack of collagen VI. We will collect samples from patients affected by collagen-VI muscular dystrophies to study muscle stem cell defects in vitro. Moreover, we will use a 3D muscle-in-a-dish system to screen for therapeutic drugs that enhance the myogenesis capacity of muscle stem cells. Overall, this project will provide a better comprehension of this rare muscular disease, and it will open the way to new therapeutic avenues.