Does Dystrophin Restoration Reverse Epigenetic and Transcriptional Pathogenic Features in Duchenne Muscular Dystrophy?
Abstract
Duchenne muscular dystrophy (DMD) is a devastating pediatric disease caused by mutations in the dystrophin gene, leading DMD boys to a wheelchair, followed by premature death within the second/third decade of their life. There is not yet a definitive cure of the disease; however, the recent entry into clinical trials of gene therapies approaches aimed at restoring dystrophin in DMD boys prompted an interest to evaluate the full spectrum of alterations caused by dystrophin deficiency and whether they can be completely or partly restored upon gene therapy. This proposal will address this urgent issue by investigating the relationship between dystrophin deficiency, the integrity of the tri-dimensional structure of the genome and the gene expression output of DMD muscles, and by determining whether these alterations could be reversed upon dystrophin replacement by the expression of micro-dystrophin – a strategy currently used in clinical trials with DMD boys.
Document Details
- Document Type
- DoD Grant Award
- Publication Date
- Dec 05, 2021
- Source ID
- W81XWH2110905
Entities
People
- Pier Puri
Organizations
- Sanford Burnham Prebys Medical Discovery Institute
- United States Army