Analysis of Dysferlin in Muscle Cells: Muscular Dystrophy

Abstract

Mutations in human dysferlin results in Muscular Dystrophy. Loss of dysferlin prevents the efficient repair of muscles and results in muscle loss. In recent studies, they have found the muscle differentiation may also be affected by the loss of the dysferlin protein. If muscle differentiation is affected, it could affect the number of muscle stem cells. If there's deficient repair, the lost muscle cells cannot be replaced due to the defects in stem cell differentiation. I am working with two cell lines derived from mouse cells: C2C12 cells which have dysferlin, and GREG cells which do not have dysferlin. If all of this is true, this could prevent the GREG cells from replacing lost muscle cells, and further intensify disease progression. I will be performing PCR based assays to confirm that the GREG cells do not have dysferlin, and myoblast to myotube differentiation assays to assess the efficiency of myoblast differentiation in cells lacking the dysferlin protein.

Sarah McNeil | Biology and Chemistry | Faculty Sponsor Eric Williams