Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.

ABSTRACT:

Background

Pompe disease is an autosomal recessive metabolic neuromuscular disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It has long been believed that the underlying pathology leading to tissue damage is caused by the enlargement and rupture of glycogen-filled lysosomes. Recent studies have also implicated autophagy, an intracellular lysosome-dependent degradation system, in the disease pathogenesis. In this study, we characterize the long-term impact of enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) on lysosomal glycogen accumulation and autophagy in some of the oldest survivors with classic infantile Pompe disease (IPD).

Methods

Muscle biopsies from 8 [4 female, 4 male; 6 cross-reactive immunologic material (CRI

SUBMITTER: Prater SN 

PROVIDER: S-EPMC3691834 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature