Mouse Model of Pompe Disease for Therapy Discovery
This technology includes a mouse model of Pompe disease, created by targeted inactivation of the acid alpha-glucosidase gene, to test novel therapies. Pompe disease is a severe muscle disorder that affects people at any age. It is a rare genetic disease caused by a deficiency of a lysosomal enzyme acid alpha-glucosidase. The enzyme degrades glycogen to glucose in the lysosomes. The deficiency leads to accumulation of glycogen in multiple organs, but cardiac and skeletal muscles are most severely affected.