期刊
MUSCLE & NERVE
卷 37, 期 4, 页码 431-437出版社
WILEY
DOI: 10.1002/mus.20947
关键词
cytochrome c oxidase; glucose transporter 4; McArdle's disease; metabolism; phosphofructokinase
Inborn errors of metabolism represent an opportunity to conduct studies in order to understand compensatory adaptations to a defective metabolic pathway. We evaluated the molecular and biochemical adaptations in substrate metabolism (glycolysis, electron transport chain, tricarboxylic acid cycle, p-oxidation) in response to myophosphorylase deficiency in skeletal muscle from 13 patients with McArdle's disease (MD) and 13 age-matched controls. MID muscle had higher phosphofructokinase protein content and activity as well as glucose transporter 4 (GLUT4) protein content and lower GLUT4 mRNA content than controls. At the protein level, skeletal muscle adaptations suggest an augmented glucose transport and glycolytic flux as a compensatory metabolic strategy to a chronic absence of muscle glycogen phosphorylase. These results support previous findings of increased glucose uptake during exercise and alleviation of symptoms with oral sucrose in patients with MD.
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