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Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata

  • Medical Genetics
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Abstract

Peroxisomes were studied in the liver of two rhizomelic chondrodysplasia punctata patients using electron microscopy and catalase cytochemistry. Immuno-electron microscopy was carried out on the liver of one of these patients using antibodies to catalase, acyl-CoA oxidase, bifunctional protein, 3-ketoacyl-CoA thiolase and a 68 kDa peroxisomal membrane protein, in conjunction with protein-A colloidal gold. Moderately to markedly enlarged, flocculent peroxisomes were found in both patients. In one patient they were very heterogeneous with regard to the number per hepatocyte. The peroxisomes had very low levels of catalase as indicated by cytochemistry and immunocytochemistry. The three β-oxidation enzymes were localised normally within the peroxisomes. The 68 kDa membrane protein was localised to the peroxisomal membranes. Some extra membrane loops were also identified using this antibody.

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Abbreviations

DAB:

3,3′ diaminobenzidine

RCDP:

rhizomelic chondrodysplasia punctata

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Authors and Affiliations

  1. Department of Histopathology, Adelaide Children's Hospital North Adelaide, 5006, South Australia, Australia

    J. L. Hughes

  2. Department of Chemical Pathology, Adelaide Children's Hospital North Adelaide, 5006, South Australia, Australia

    A. Poulos

  3. Division of Science and Technology, Griffith University, Brisbane, Queensland, Australia

    D. I. Crane

  4. Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Victoria, Australia

    C. W. Chow

  5. Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia

    L. J. Sheffield

  6. Medical Genetics Unit, Children's Hospital, Camperdown, New South Wales, Australia

    D. Sillence

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  1. J. L. Hughes
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  2. A. Poulos
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  3. D. I. Crane
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Hughes, J.L., Poulos, A., Crane, D.I. et al. Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. Eur J Pediatr 151, 829–836 (1992). https://doi.org/10.1007/BF01957935

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  • DOI: https://doi.org/10.1007/BF01957935

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