Effect of isolated {AMP} deaminase deficiency on skeletal muscle function

摘要

Abstract Mutation of the {AMP} deaminase 1 (AMPD1) gene, the predominate {AMPD} gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2–3% of individuals in this ethnic group are homozygous for defects in the {AMPD1} gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a metabolic myopathy and/or easy fatigability while others indicate individuals with this inherited defect are completely asymptomatic. Because of confounding problems in assessing muscle symptoms and performance in human subjects with different genetic backgrounds and different environmental experiences such as prior exercise conditioning and diet, a strain of inbred mice with selective disruption of the {AMPD1} was developed to study the consequences of muscle {AMPD} deficiency in isolation. Studies reported here demonstrate that these animals are a good metabolic phenocopy of human {AMPD1} deficiency but they exhibit no abnormalities in muscle performance in three different exercise protocols.