The TGFβ pathway as a therapeutic target for collagen VI-related muscular dystrophy
Awardee: Payam Mohassel
Institution: Johns Hopkins University
Grant Amount: $113,008.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
Mutations in collagen VI cause a spectrum of muscle disease ranging from severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy. Collagen VI is an integral component of the extracellular matrix. When collagen VI is not functioning properly due to mutations, skeletal muscle will develop weakness, atrophy, degeneration, and fibrosis. We have recently identified alterations in regulation of the TGFβ pathway in human muscle biopsy samples of patients with COL6-related dystrophies (COL6-RD). We have also found a similar alteration of this pathway in a new mouse model of the disease, Col6a2 knockout mice. The overall goal of this project is to help identify novel therapeutic targets in COL6-RD that engage the TGFβ pathway and to test them in the mouse model. We trust that these studies will increase our understanding of this pathway in COL6-RD and pave the way for future studies of therapeutics that target this pathway.