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Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease
Author(s) -
Drost Maarten R.,
Schaart Gert,
van Dijk Paul,
van Capelle Carine I.,
van Der Vusse Ger J.,
Delhaas Tammo,
van Der Ploeg Ans T.,
Reuser Arnold J. J.
Publication year - 2008
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20896
Subject(s) - enzyme replacement therapy , glycogen storage disease type ii , lysosome , medicine , disease , muscle weakness , skeletal muscle , muscle fibre , lamp1 , pathology , enzyme , endocrinology , chemistry , biochemistry
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 ∼95% of type 1 and ∼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. Muscle Nerve, 2007