McArdle disease does not affect skeletal muscle fibre type profiles in humans
| Autor: | Kohn, Tertius Abraham, Noakes, Timothy David, Rae, Dale Elizabeth, Rubio, Juan Carlos, Santalla, Alfredo, Nogales, Gisela, Pinós, Tomas, Martín, Miguel A., Arenas, Joaquín, Lucia, Alejandro, Universitat Autònoma de Barcelona |
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| Rok vydání: | 2014 |
| Předmět: |
Ciencia
Gene isoform medicine.medical_specialty MCARDLE DISEASE QH301-705.5 Science Salud Genética humana Major histocompatibility complex Biceps General Biochemistry Genetics and Molecular Biology Contractility Internal medicine MHC class I Myosin medicine Biology (General) Phosphorylase deficiency Glycogen storage disease V biology business.industry Enfermedades - McArdle medicine.disease Ejercicio físico Genética Endocrinology biology.protein Myosin heavy chain General Agricultural and Biological Sciences business Glycogen storage disease type V Research Article |
| Zdroj: | Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona Biology Open, Vol 3, Iss 12, Pp 1224-1227 (2014) Biology Open ABACUS. Repositorio de Producción Científica Universidad Europea (UEM) |
| ISSN: | 2046-6390 2011-0715 |
| DOI: | 10.1242/bio.20149548 |
| Popis: | Altres ajuts: National Research Foundation of South Africa (grant no: CPR20110715000020922); Executive Agency for Health and Consumers. European Union Ares no. 318081 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. |
| Databáze: | OpenAIRE |
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