Investigators: Nizar Saad BS MSc PhD, Scott Q Harper PhD
Category: Research - Translational
Dr. Scott Q Harper, PhD will act as mentor for this proposal.
Facioscapulohumeral dystrophy (FSHD) is a genetic muscle disease caused by the unusual presence of DUX4 in skeletal muscles. As a result, skeletal muscles become damaged and weak. In our proposed project, we are developing two therapeutic strategies to eliminate DUX4 from skeletal muscles, stop muscle degradation and trigger muscle repair. These strategies rely on the power of natural small molecules called “microRNAs” that are normally found in many human tissues, among them skeletal muscles. The natural function of these microRNAs is to decrease the levels of proteins in a cell. Each microRNA can specifically decrease the level of one or more proteins. In fact, a microRNA becomes more efficient in decreasing the levels of its target protein when it becomes more abundant in the cell. Accordingly, in our therapeutic strategies we aim to use gene and molecular tools (Adeno Associated Viral (AAV) vectors and pharmaceutical drugs) to increase the abundance of a specific microRNA targeting DUX4 in skeletal muscles, and thus, to reach our ultimate goal to cure FSHD.
Article Human MicroRNA Inhibits Expression of Pathogenic Gene Underlying Facioscapulohumeral Muscular Dystrophy
Publication Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy
Publication The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors [note: salary support]
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