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

M.R. Drost*, G. Schaart, P. van Dijk, C.I. van Capelle, G.J. van der Vusse, T. Delhaas, A.T. van der Ploeg, A.J. Reuser

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.
Original languageEnglish
Pages (from-to)251-5
JournalMuscle & Nerve
Issue number2
Publication statusPublished - 1 Jan 2008


Dive into the research topics of 'Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease'. Together they form a unique fingerprint.

Cite this