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Lead investigator

Collaborators & Co-Investigators

• Mathieu Durand, MSc

Research Sites & Affiliations

• Université de Sherbrooke, Sherbrooke, Quebec

Budget: $100,000

Disorders: Limb girdle muscular dystrophies

Research Areas: Discover Novel Treatments & Therapies

Abstract: 

Dysferlinopathies are a rare type of muscle disease that leads to wheelchair use for most patients by the time they reach 40 years old. Dysferlinopathies affect several Canadians, most notably those of Indigenous or Acadian origin. There is currently no cure for dysferlinopathies, which are caused by spelling errors in the gene DYSF. These errors are also present in the DYSF messenger RNA (mRNA), needed to produce the protein dysferlin, which is important for repair of muscle cells. Before being used to produce protein, the DYSF mRNA must go through a process called splicing to keep only some sections called exons. Treatments for other muscle diseases change splicing to exclude certain exons that contain errors. This leads to an improvement in symptoms. This strategy shows promise for the treatment of dysferlinopathies, however it is important to better understand DYSF splicing and how modifying splicing could impact the function of DYSF mRNA. This study aims to study how DYSF mRNA is spliced, where it is located, and how much exists in healthy muscle cells. New technology that allows to read each copy of DYSF mRNA from start to finish will be used. Then, how the location and levels of DYSF mRNA change when its splicing is modified will be examined which will allow for finding which errors in DYSF can be targeted by modifying splicing. This could lead to new treatments that would improve the lives of those affected by dysferlinopathies.

Impact: