TY - JOUR 
A1 - Kohn, Tertius Abraham
AU - Noakes, Timothy D.
AU - Rae, Dale E.
AU - Rubio, Juan Carlos
AU - Santalla Hernández, Alfredo
AU - Nogales-Gadea, Gisela
AU - Pinós, Tomás
AU - Martín, Miguel Ángel
AU - Arenas, Joaquín
AU - Lucía Mulas, Alejandro
T1 - McArdle disease does not affect skeletal muscle fibre type profiles in human
Y1 - 2014
SN - 20466390
UR - http://hdl.handle.net/11268/4002
AB - 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%).
KW - Myosin heavy chain
KW - Glycogen storage disease V
KW - Phosphorylase deficiency
KW - Enfermedades - McArdle
KW - Ejercicio físico
KW - Genética
KW - Ciencia
KW - Salud
KW - Genética humana
LA - eng
ER -