Muscle Regeneration and Repair in the Pompe Mouse

Abstract

Pompe disease is a lysosomal storage disease in which a deficiency of the enzyme lysosomal acid-alpha glucosidase (GAA) results in accumulation of glycogen primarily in skeletal muscle tissue, resulting in muscle damage and functional impairment. In the classical infantile-onset form, cardiac muscle is severely affected, and, untreated, usually leads to death within a year of age. Enzyme replacement therapy with Myozyme® has proven to be beneficial in the treatment of Pompe disease. However, the opportunity exists to investigate GAA deficiency and disease mechanisms at the cellular level to further understand the pathophysiology of Pompe disease.