Article

Journal of Muscle Research & Cell Motility

, Volume 27, Issue 1, pp 83-92

First online:

Immunohistochemical analysis of human skeletal muscle AMP deaminase deficiency. Evidence of a correlation between the muscle HPRG content and the level of the residual AMP deaminase activity

  • Antonietta R.M. SabbatiniAffiliated withDipartimento di Scienze dell’Uomo e dell’Ambiente, Chimica e Biochimica Medica, Università di Pisa
  • , Antonio ToscanoAffiliated withDipartimento di Neuroscienze, Scienze Psichiatriche ed Anestesiologiche, Università di Messina
  • , Mohammed AguennouzAffiliated withDipartimento di Neuroscienze, Scienze Psichiatriche ed Anestesiologiche, Università di Messina
  • , Daniela MartiniAffiliated withDipartimento di Scienze dell’Uomo e dell’Ambiente, Chimica e Biochimica Medica, Università di Pisa
  • , Enza PolizziAffiliated withDipartimento di Scienze dell’Uomo e dell’Ambiente, Chimica e Biochimica Medica, Università di Pisa
  • , Maria Ranieri-RaggiAffiliated withDipartimento di Scienze dell’Uomo e dell’Ambiente, Chimica e Biochimica Medica, Università di Pisa
  • , Arthur J.G. MoirAffiliated withDepartment of Molecular Biology and Biotechnology, University of Sheffield
  • , Alba MiglioratoAffiliated withDipartimento di Neuroscienze, Scienze Psichiatriche ed Anestesiologiche, Università di Messina
  • , Olimpia MusumeciAffiliated withDipartimento di Neuroscienze, Scienze Psichiatriche ed Anestesiologiche, Università di Messina
    • , Giuseppe VitaAffiliated withDipartimento di Neuroscienze, Scienze Psichiatriche ed Anestesiologiche, Università di Messina
    • , Antonio RaggiAffiliated withDipartimento di Scienze dell’Uomo e dell’Ambiente, Chimica e Biochimica Medica, Università di Pisa Email author 

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Abstract

We have previously described that, in healthy human skeletal muscle, an anti-histidine-proline-rich-glycoprotein (HPRG) antibody selectively binds to type IIB fibers that are well known to contain the highest level of AMP deaminase (AMPD) activity, suggesting an association of the HPRG-like protein to the enzyme isoform M. The present paper reports an immunohistochemical study performed on human skeletal muscle biopsies from patients with AMPD deficiency and carried out utilizing both the anti-HPRG antibody and an anti-AMPD antibody specific for the isoform M. A correlation between the muscle content of the HPRG-like protein and the level of AMPD activity was demonstrated. In the specimens from patients with Acquired AMPD deficiency the HPRG-immunoreactivity was less intense than that shown by the control subjects and was related to the residual AMPD activity. The patients affected by Primary and Coincidental AMPD deficiency, which were characterized by an absence of enzyme activity and AMPD immunoreactivity, showed the lowest HPRG immunoreactivity that was clearly detectable by Western blot analysis, but not by immunohistochemistry. The interpretation of the significance of these observations suggests a physiological mutual dependence between skeletal muscle HPRG and AMPD polypeptides with regard to their stability.