Effect of isolated AMP deaminase deficiency on skeletal muscle function

Molecular Genetics and Metabolism Reports

Yasuaki Kawai¹  Satoshi Matsuo¹  Erika Kimura²  Atsushi Dohi²  Naomi Sugimoto²  Takayuki Morisaki²  Takuya Shintani²  Keiko Toyama²  Jidong Cheng²  Hiroko Morisaki²  Takako Sugama³  Itsuro Higuchi⁴  Ichiro Hisatome⁵  Masahito Ikawa⁶  Masaru Okabe⁶  Edward W. Holmes⁷ 

[1] Department of Adaptation Physiology, Tottori University Faculty of Medicine, Yonago, Tottori, Japan;Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan;Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA, USA;Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan;Division of Regenerative Medicine and Therapeutics, Tottori University Graduate School of Medical Sciences, Yonago, Tottori, Japan;Genome Information Research Center, Osaka University, Suita, Osaka, Japan;Sanford Consortium for Regenerative Medicine, San Diego, CA, USA;

关键词: AMP deaminase;    Nucleotide metabolism;    Muscle;   

DOI  :  10.1016/j.ymgmr.2013.12.004

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown