Abstract
Pompe disease is a lysosomal storage disorder caused by acid α-glucosidase deficiency and characterized by progressive muscle weakness. Enzyme replacement therapy (ERT) has ameliorated patients’ perspectives, but reversal of skeletal muscle pathology remains a challenge. We studied pretreatment biopsies of 22 patients with different phenotypes to investigate to what extent fiber-type distribution and fiber-type-specific damage contribute to clinical diversity. Pompe patients have the same fiber-type distribution as healthy persons, but among nonclassic patients with the same GAA mutation (c.-32-13T>G), those with early onset of symptoms tend to have more type 2 muscle fibers than those with late-onset disease. Further, it seemed that the older, more severely affected classic infantile patients and the wheelchair-bound and ventilated nonclassic patients had a greater proportion of type 2x muscle fibers. However, as in other diseases, this may be caused by physical inactivity of those patients.
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Acknowledgements
We thank patients and parents for participating in the study; and J. Hardon, H. Nelisse, and T. Oskam for their contribution to the study as research nurses.
The research on Pompe disease at Erasmus MC was financially supported by the Erasmus MC Revolving Fund (NAMEvdB, project no 1054), ZonMw-Dutch organization for healthcare research and innovation of care [Grant 152001005], The ‘Prinses Beatrix Fonds’ (project number OP07-08) and the European Union, 7th Framework Program “EUCLYD-a European Consortium for Lysosomal Storage Diseases” of the European Union (health F2/2008 grant agreement 201678).
Competing interest
As of August 2004, ATvdP and AJR provide consulting services for Genzyme Corp, Cambridge, MA, USA, under an agreement between Genzyme Corp and Erasmus MC, Rotterdam, the Netherlands. This agreement also caters to financial support for Erasmus MC for research in Pompe disease. Erasmus MC and inventors for the method of treatment of Pompe’s disease by ERT receive royalty payments pursuant to Erasmus MC policy on inventions, patents and technology transfer.
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Communicated by: Ed Wraith
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Supplementary Figure 1
The percentage of a types 1 and 2 muscle fibers, and b percentage of type 2a and type 2x muscle fibers in classic infantile patients and nonclassic patients. Significance between the different groups of patients is shown by * (P < 0.05). (JPEG 22 kb)
Supplementary Table 1
Patient characteristics (DOC 61 kb)
Supplementary Table 2
Degree of vacuolation per muscle-fiber type (percentage of fibers) (DOC 26 kb)
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van den Berg, L.E.M., Drost, M.R., Schaart, G. et al. Muscle fiber-type distribution, fiber-type-specific damage, and the Pompe disease phenotype. J Inherit Metab Dis 36, 787–794 (2013). https://doi.org/10.1007/s10545-012-9541-7
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DOI: https://doi.org/10.1007/s10545-012-9541-7