title: Effect of isolated AMP deaminase deficiency on skeletal muscle function.
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.
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan.
authors.forename: Jidong
authors.initials: J
authors.lastname: Cheng
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Morisaki
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.
authors.forename: Naomi
authors.initials: N
authors.lastname: Sugimoto
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Dohi
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Shintani
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan.
authors.forename: Erika
authors.initials: E
authors.lastname: Kimura
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Toyama
authors.affiliation: Genome Information Research Center, Osaka University, Suita, Osaka, Japan.
authors.forename: Masahito
authors.initials: M
authors.lastname: Ikawa
authors.affiliation: Genome Information Research Center, Osaka University, Suita, Osaka, Japan.
authors.forename: Masaru
authors.initials: M
authors.lastname: Okabe
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Itsuro
authors.initials: I
authors.lastname: Higuchi
authors.affiliation: Department of Adaptation Physiology, Tottori University Faculty of Medicine, Yonago, Tottori, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Matsuo
authors.affiliation: Department of Adaptation Physiology, Tottori University Faculty of Medicine, Yonago, Tottori, Japan.
authors.forename: Yasuaki
authors.initials: Y
authors.lastname: Kawai
authors.affiliation: Division of Regenerative Medicine and Therapeutics, Tottori University Graduate School of Medical Sciences, Yonago, Tottori, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Hisatome
authors.affiliation: Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
authors.forename: Takako
authors.initials: T
authors.lastname: Sugama
authors.affiliation: Sanford Consortium for Regenerative Medicine, San Diego, CA, USA.
authors.forename: Edward W
authors.initials: EW
authors.lastname: Holmes
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan; Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Morisaki
keywords: AMP deaminase; Muscle; Nucleotide metabolism