Neuromuscular Disorders
Volume 12, Issue 6 , Pages 558-565 , August 2002

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population

  • M Gross

      Affiliations

    • Medizinische Poliklinik – Innenstadt, University of Munich, Pettenkoferstrasse 8a, D-80336 Munich, Germany
    • ,
  • E Rötzer

      Affiliations

    • Medizinische Poliklinik – Innenstadt, University of Munich, Pettenkoferstrasse 8a, D-80336 Munich, Germany
    • ,
  • P Kölle

      Affiliations

    • Medizinische Poliklinik – Innenstadt, University of Munich, Pettenkoferstrasse 8a, D-80336 Munich, Germany
    • ,
  • W Mortier

      Affiliations

    • Muskelzentrum Ruhrgebiet, Alexandrinenstrasse 5, 44791 Bochum, Germany
    • ,
  • H Reichmann

      Affiliations

    • Klinik und Poliklinik für Neurologie, University of Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    • ,
  • H.H Goebel

      Affiliations

    • Neuropathologie, University of Mainz, Langenbeckstrasse 1, 55101 Mainz, Germany
    • ,
  • H Lochmüller

      Affiliations

    • Friedrich-Baur-Institut der Medizinischen Fakultät, University of Munich, Ziemssenstrasse 1a, D-80336 Munich, Germany
    • ,
  • D Pongratz

      Affiliations

    • Friedrich-Baur-Institut der Medizinischen Fakultät, University of Munich, Ziemssenstrasse 1a, D-80336 Munich, Germany
    • ,
  • D.K Mahnke-Zizelman

      Affiliations

    • Department of Biochemistry, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    • ,
  • R.L Sabina

      Affiliations

    • Department of Biochemistry, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1-414-456-4697; fax: +1-414-456-6510

Received 25 October 2001 ,Revised 18 January 2002 ,Accepted 4 February 2002.

References 

  1. Morisaki T, Gross M, Morisaki H, Pongratz D, Zöllner N, Holmes EW. Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci USA. 1992;89:6457–6461
  2. Norman B, Glenmark B, Jansson E, Muscle AMP. deaminase deficiency in 2% of a healthy population. Muscle Nerve. 1995;18:234–241
  3. Gross M. Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency. J Inher Metab Dis. 1997;20:186–192
  4. Verzijl HTFM, van Engelen BGM, Luyten JAFM, et al.  Genetic characteristics of myoadenylate deaminase deficiency. Ann Neurol. 1998;44:140–143
  5. Norman B, Mahnke-Zizelman DK, Vallis A, Sabina RL. Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle. J Appl Physiol. 1998;85:1273–1278
  6. Sabina RL. Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurol Clin. 2000;18:185–194
  7. Sabina RL, Holmes EW. Myoadenylate deaminase deficiency. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001;p. 2627–2638
  8. Fishbein WN. Myoadenylate deaminase deficiency: inherited and acquired forms. Biochem Med. 1985;33:158–169
  9. Zöllner N, Reiter S, Gross M, et al.  Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose. Klin Wochenschr. 1986;64:1281–1290
  10. Bruyland M, Ebinger G. Beneficial effect of a treatment with xylitol in a patient with myoadenylate deaminase deficiency. Clin Neuropharmacol. 1994;5:492–493
  11. Fishbein WN. Primary, secondary, and coincidental types of myoadenylate deaminase deficiency. Ann Neurol. 1999;45:547–548
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  13. Hayes DJ, Summers BA, Morgan-Hughes JA. Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced pain. J Neurol Sci. 1982;53:125–136
  14. Sinkeler SPT, Joosten EMG, Wevers RA, et al.  Myoadenylate deaminase deficiency: a clinical and biochemical study in nine families. Muscle Nerve. 1988;11:312–317
  15. Tarnapolsky MA, Parise G, Gibala MJ, Graham TE, Rush JWE. Myoadenylate deaminase deficiency does not affect muscle anaplerosis during exhaustive exercise in humans. J Physiol. 2001;533:881–889
  16. Tsujino S, Shanske S, Carroll JE, Sabina RL, DiMauro S. Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci. Neuromusc Disord. 1995;5:263–266
  17. Rubio JC, Martin MA, Bautista J, Campos Y, Segura D, Arenas J. Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: a second case of double trouble. Neuromusc Disord. 1997;7:387–389
  18. Bruno C, Minetti C, Shanske S, et al.  Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. Neurology. 1998;50:296–298
  19. Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab. 2000;71:10–18
  20. Loh E, Rebbeck TR, Mahoney PD, DeNofrio D, Swain JL, Holmes EW. Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. Circulation. 1999;99:1422–1425
  21. Anderson JL, Habashi J, Carlquist JF, et al.  A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease. J Am Coll Cardiol. 2000;36:1248–1252
  22. Marin R, Connick E. Tension myalgia versus myoadenylate deaminase deficiency: a case report. Arch Phys Med Rehabil. 1997;78:95–97
  23. Rotzer E, Mortier W, Reichmann H, Gross M. The genetic basis of myoadenylate deaminase deficiency is heterogeneous. Adv Exp Med Biol. 1998;431:129–133
  24. Fishbein WN, Davis JI, Merezhinskaya N, Foellmer JW. Additional mutations involved in the genesis of myo-adenylate deaminase deficiency (mADD). FASEB J. 1999;13:A1375
  25. Gross M. New method for detection of C34-T mutation in the AMPD1 gene causing myoadenylate deaminase deficiency. Ann Rheum Dis. 1994;53:353–354
  26. Fishbein WN, Davis JI, Foellmer JW, Nieves S, Merezhinskaya N. A competitive allele-specific oligomers polymerase chain reaction assay for the cis double mutation in AMPD1 that is the major cause of myo-adenylate deaminase deficiency. Mol Diagn. 1997;2:121–128
  27. Morisaki H, Higuchi I, Abe M, Osame M, Morisaki T. First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. Hum Mutat. 2000;16:467–472
  28. Mahnke-Zizelman DK, Tullson PC, Sabina RL. Novel aspects of tetramer assembly and N-terminal domain structure and function are revealed by recombinant expression of human AMP deaminase isoforms. J Biol Chem. 1998;273:35118–35125
  29. Mahnke-Zizelman DK, Sabina RL. Localization of N-terminal sequences in human AMP deaminase isoforms that influence contractile protein binding. Biochem Biophys Res Commun. 2001;285:489–495
  30. Norman B, Sabina RL, Jansson E. Regulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects. J Appl Physiol. 2001;91:258–264

PII: S0960-8966(02)00008-1

Neuromuscular Disorders
Volume 12, Issue 6 , Pages 558-565 , August 2002

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