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Muscle Nerve. 2008 Feb;37(2):251-5.

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.

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  • 1Department of Movement Sciences, Nutrition, Toxicology Research Institute Maastricht, Maastricht University, P.O. Box 616, NL 6200 MD Maastricht, The Netherlands. maarten.drost@bw.unimaas.nl

Abstract

Muscle weakness is the main symptom of Pompe disease, a lysosomal storage disorder for which major clinical benefits of enzyme replacement therapy (ERT) have been documented recently. Restoration of skeletal muscle function is a challenging goal. Type 2 muscle fibers of mice with Pompe disease have proven resistant to therapy. To investigate the response in humans, we studied muscle biopsies of a severely affected infant before and after 17 months of therapy. Type 1 and 2a fibers were marked with antibodies, and lysosome-associated membrane protein-1 (Lamp1) was used as the lysosomal membrane marker. Quantitative measurements showed a 2.5-3-fold increase of fiber cross-sectional area of both fiber types during therapy and normalization of the Lamp1 signal in approximately 95% of type 1 and approximately 75% of type 2a fibers. The response of both type 1 and 2a muscle fibers in the patient studied herein corroborates the beneficial effects of enzyme therapy seen in patients with Pompe disease.

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