Abstract
Three enzymes of adenine nucleotide metabolism, adenylosuccinate synthetase (ASS), adenylosuccinate lyase (adenylosuccinase, ASL), and AMP deaminase (AMPDA), form the purine nucleotide cycle.1,2 Deficiences of muscle AMPDA (often called myoadenylate deaminase in the clinical literature) are frequently diagnosed either as a primary genetic, or as a secundary defect in patients presenting with muscular symptoms.3,5 In contrast, very few patient studies have been devoted to the two other enzymes of the purine nucleotide cycle. Only Kar and Pearson6 reported normal activities of ASL in muscle from patients with Duchenne and other neuromuscular diseases. In the present study ASS, ASL, and AMPDA were assayed in a series of muscle biopsies taken from patients suffering from fatigue and cramps following moderate to vigorous exercise.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Lowenstein JM:Ammonia production in muscle and other tissues:the purine nucleotide cycle. Physiol Rev 52: 282–414 (1972).
Van den Berghe G, Bontemps F, Vincent MF, Van den Bergh F:The purine nucleotide cycle and its molecular defects. Progr Neurobiol 39: 547–561 (1992).
Fishbein WN:Myoadenylate deaminase deficiency:a new disease of muscle. Science 200: 545–548 (1978).
Gross M:Molecular biology of AMP deaminase deficiency. Pharmacy World Sci 16: 55–61 (1994).
Sabina RL, Holmes EW:Myoadenylate deaminase deficiency. In:Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, 7th ed, pp. 1769–1780 (1995).
Kar NC, Pearson CM:Adenylosuccinase in human muscular dystrophy. Muscle Nerve 4: 174–175 (1981).
Ogawa H, Shiraki H, Matsuda Y, Nakagawa H:Interaction of adenylosuccinate synthetase with F-actin. Eur J Biochem 85: 327–331 (1978).
Van den Bergh F, Vincent MF, Jaeken J, Van den Berghe G:Radiochemical assay of adenylosuccinase:demonstration of parallel loss of activity toward both adenylosuccinate and succinylaminoimidazole carboxamide ribotide in liver of patients with the enzyme defect. Anal Biochem 193: 287–291 (1991).
Lowry OH, Rosebrough NJ, Farr AL, Randall RJ:Protein measurements with the Folin phenol reagent. J Biol Chem 193: 265–275 (1951).
Reichmann H, DeVivo DC:Coordinate enzymatic activity of beta oxidation and purine nucleotide cycle in a diversity of muscle and other organs of rat. Comp Biochem Physiol 98 B: 327–331 (1991).
Stayton MM, Rudolph FB, Fromm HJ:Regulation, genetics and properties of adenylosuccinate synthetase:a review. Curr Top Cell Regul 22: 103–141 (1983).
Medsger TA:Progressive systemic sclerosis:skeletal muscle involvement. Clin Rheum Dis 5: 102–113 (1979).
Kar NC, Pearson CM:Muscle adenylate deaminase deficiency:report of six new cases. Arch Neurol 38: 279–281 (1981).
Mercelis M, Martin JJ, de Barsy T, Van den Berghe G:Myoadenylate deaminase deficiency:absence of correlation with exercise intolerance in 452 muscles biopsies. J Neurol 234: 385–389 (1987).
Jaeken J, Van den Berghe G:An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 2: 1058–1061 (1984).
Stone RL, Aimi J, Barshop BA, Jaeken J, Van den Berghe G, Zalkin H, Dixon JE:A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nature Genetics 1: 59–63 (1992).
Jaeken J, Wadman SK, Duran M, van Sprang FJ, Beemer FA, Holl RA, Theunissen PM, De Cock P, Van den Bergh F, Vincent MF, Van den Berghe G:Adenylosuccinase deficiency:an inborn error of purine nucleotide synthesis. EurJ Pediatr 148: 126–131 (1988).
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1998 Springer Science+Business Media New York
About this chapter
Cite this chapter
Operti, MG., Vincent, MF., Brucher, JM., Van den Berghe, G. (1998). Muscle Purine Nucleotide Cycle Enzymes in Exercise Intolerance. In: Griesmacher, A., Müller, M.M., Chiba, P. (eds) Purine and Pyrimidine Metabolism in Man IX. Advances in Experimental Medicine and Biology, vol 431. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5381-6_40
Download citation
DOI: https://doi.org/10.1007/978-1-4615-5381-6_40
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-7456-5
Online ISBN: 978-1-4615-5381-6
eBook Packages: Springer Book Archive