Skip to main content

Muscle Purine Nucleotide Cycle Enzymes in Exercise Intolerance

  • Chapter
Purine and Pyrimidine Metabolism in Man IX

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Lowenstein JM:Ammonia production in muscle and other tissues:the purine nucleotide cycle. Physiol Rev 52: 282–414 (1972).

    Google Scholar 

  2. 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).

    Article  Google Scholar 

  3. Fishbein WN:Myoadenylate deaminase deficiency:a new disease of muscle. Science 200: 545–548 (1978).

    Google Scholar 

  4. Gross M:Molecular biology of AMP deaminase deficiency. Pharmacy World Sci 16: 55–61 (1994).

    Google Scholar 

  5. 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).

    Google Scholar 

  6. Kar NC, Pearson CM:Adenylosuccinase in human muscular dystrophy. Muscle Nerve 4: 174–175 (1981).

    Article  PubMed  CAS  Google Scholar 

  7. Ogawa H, Shiraki H, Matsuda Y, Nakagawa H:Interaction of adenylosuccinate synthetase with F-actin. Eur J Biochem 85: 327–331 (1978).

    Article  Google Scholar 

  8. 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).

    Article  PubMed  Google Scholar 

  9. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ:Protein measurements with the Folin phenol reagent. J Biol Chem 193: 265–275 (1951).

    PubMed  CAS  Google Scholar 

  10. 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).

    CAS  Google Scholar 

  11. Stayton MM, Rudolph FB, Fromm HJ:Regulation, genetics and properties of adenylosuccinate synthetase:a review. Curr Top Cell Regul 22: 103–141 (1983).

    PubMed  CAS  Google Scholar 

  12. Medsger TA:Progressive systemic sclerosis:skeletal muscle involvement. Clin Rheum Dis 5: 102–113 (1979).

    Google Scholar 

  13. Kar NC, Pearson CM:Muscle adenylate deaminase deficiency:report of six new cases. Arch Neurol 38: 279–281 (1981).

    Article  PubMed  CAS  Google Scholar 

  14. 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).

    Article  PubMed  CAS  Google Scholar 

  15. Jaeken J, Van den Berghe G:An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 2: 1058–1061 (1984).

    PubMed  CAS  Google Scholar 

  16. 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).

    Article  PubMed  CAS  Google Scholar 

  17. 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).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints 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

Publish with us

Policies and ethics