McArdle disease does not affect skeletal muscle fibre type profiles in humans
Kohn, Tertius Abraham (UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town)
Noakes, Timothy David (UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town)
Rae, Dale Elizabeth (UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town)
Rubio, Juan Carlos (Hospital Universitario 12 de Octubre (Madrid))
Santalla, Alfredo (Universidad Pablo de Olavide. Departamento de Deporte e Informática)
Nogales, Gisela (Institut d'Investigació Biomèdica Sant Pau)
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron)
Martín, Miguel A. (Hospital Universitario 12 de Octubre (Madrid))
Arenas, Joaquín (Hospital Universitario 12 de Octubre (Madrid))
Lucia, Alejandro (European University of Madrid)
Universitat Autònoma de Barcelona

Data:	2014
Resum:	Patients suffering from glycogen storage disease V (McArdle disease) were shown to have higher surface electrical activity in their skeletal muscles when exercising at the same intensity as their healthy counterparts, indicating more muscle fibre recruitment. To explain this phenomenon, this study investigated whether muscle fibre type is shifted towards a predominance in type I fibres as a consequence of the disease. Muscle biopsies from the Biceps brachii (BB) (n = 9) or Vastus lateralis (VL) (n = 8) were collected over a 13-year period from male and female patients diagnosed with McArdle disease, analysed for myosin heavy chain (MHC) isoform content using SDS-PAGE, and compared to healthy controls (BB: n = 3; VL: n = 10). All three isoforms were expressed and no difference in isoform expression in VL was found between the McArdle patients and healthy controls (MHC I: 33±19% vs. 43±7%; MHC IIa: 52±9% vs. 40±7%; MHC IIx: 15±18% vs. 17±9%). Similarly, the BB isoform content was also not different between the two groups (MHC I: 33±14% vs. 30±11%; MHC IIa: 46±17% vs. 39±5%; MHC IIx: 21±13% vs. 31±14%). In conclusion, fibre type distribution does not seem to explain the higher surface EMG in McArdle patients. Future studies need to investigate muscle fibre size and contractility of McArdle patients.
Ajuts:	Instituto de Salud Carlos III CD10/00027 Instituto de Salud Carlos III CA05/0039 Instituto de Salud Carlos III PS12/00194
Nota:	Altres ajuts: National Research Foundation of South Africa (grant no: CPR20110715000020922); Executive Agency for Health and Consumers. European Union Ares no. 318081
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Myosin heavy chain ; Glycogen storage disease V ; Phosphorylase deficiency
Publicat a:	Biology open, Vol. 3 (november 2014) , p. 1224-1227, ISSN 2046-6390

DOI: 10.1242/bio.20149548
PMID: 25432515

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