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Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.
Muscle Nerve 2008; 37(2):251-5MN

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.

Authors+Show Affiliations

Department of Movement Sciences, Nutrition, Toxicology Research Institute Maastricht, Maastricht University, P.O. Box 616, NL 6200 MD Maastricht, The Netherlands. maarten.drost@bw.unimaas.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17894362

Citation

Drost, Maarten R., et al. "Both Type 1 and Type 2a Muscle Fibers Can Respond to Enzyme Therapy in Pompe Disease." Muscle & Nerve, vol. 37, no. 2, 2008, pp. 251-5.
Drost MR, Schaart G, van Dijk P, et al. Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. Muscle Nerve. 2008;37(2):251-5.
Drost, M. R., Schaart, G., van Dijk, P., van Capelle, C. I., van der Vusse, G. J., Delhaas, T., ... Reuser, A. J. (2008). Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. Muscle & Nerve, 37(2), pp. 251-5.
Drost MR, et al. Both Type 1 and Type 2a Muscle Fibers Can Respond to Enzyme Therapy in Pompe Disease. Muscle Nerve. 2008;37(2):251-5. PubMed PMID: 17894362.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease. AU - Drost,Maarten R, AU - Schaart,Gert, AU - van Dijk,Paul, AU - van Capelle,Carine I, AU - van der Vusse,Ger J, AU - Delhaas,Tammo, AU - van der Ploeg,Ans T, AU - Reuser,Arnold J J, PY - 2007/9/27/pubmed PY - 2008/4/18/medline PY - 2007/9/27/entrez SP - 251 EP - 5 JF - Muscle & nerve JO - Muscle Nerve VL - 37 IS - 2 N2 - 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. SN - 0148-639X UR - https://www.unboundmedicine.com/medline/citation/17894362/Both_type_1_and_type_2a_muscle_fibers_can_respond_to_enzyme_therapy_in_Pompe_disease_ L2 - https://doi.org/10.1002/mus.20896 DB - PRIME DP - Unbound Medicine ER -