Transcriptomic profile of skeletal muscle in wild-type, GAA knock-out, and AAV treated GAA knock-out mice to understand Pompe disease mechanisms and assess therapeutic efficacy

Pompe disease (glycogen storage disease type II, or acid maltase deficiency) is an autosomal-recessive disorder of metabolism caused by mutations in the lysosomal hydrolase, acid alpha-glucosidase gene (GAA), resulting in progressive muscle atrophy. Gene therapy is a promising approach to treat genetic diseases, and liver-restricted expression of secretable GAA can produce immune tolerance and improve muscle GAA activity. To further understand the molecular mechanisms underlying Pompe disease and impact of gene therapy, we applied RNA sequencing. Overall design: High throughput sequencing of RNA obtained from the quadriceps of wild-type, GAA (acid alpha glucosidase) knock-out mice, and AAV-treated GAA-knock out mice.