title: Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.
abstract: In the liver biopsy from an 8.5-year-old girl with the biochemical characteristics of rhizomelic chondrodysplasia punctata (RCDP), but with normal limbs, normal catalase-containing peroxisomes were absent. Light microscopy after diaminobenzidine staining for catalase activity (the peroxisomal marker enzyme) and immunostaining against catalase protein indicated a cytosolic localization of the enzyme. By electron microscopy, rare and extremely large, irregularly shaped vesicles were found in the parenchymal cells. The three peroxisomal beta-oxidation enzymes (acyl-CoA oxidase, bi(tri)functional enzyme, and 3-ketoacyl-CoA thiolase) and alanine-glyoxylate aminotransferase were immunolocalized in these organelles. However, a weak to negative label was obtained after staining against catalase. Diaminobenzidine staining demonstrated a minimal catalase reaction product in some vesicles only. Morphometry revealed a corrected mean d-circle of 1.44 microns and a maximum d-circle of 2.767 microns (controls: 0.635 microns and 1.027 microns, respectively). Numerical, volume, and surface densities were reduced to 3%, 41%, and 17% of control values, respectively. The large size, irregular shape, and rarity of the organelles are morphologic features of peroxisomal "ghosts." It seems that in this patient, apart from the known peroxisomal defects in RCDP, catalase incorporation into the peroxisomes is impaired together with a normal proliferation (division) of the organelles. In the cultured skin fibroblasts from the patient, however, immuno-electron microscopy showed normal catalase-containing peroxisomes in apparently normal numbers.
authors.affiliation: University of Ghent, Laboratory of Human Anatomy & Embryology, Ghent, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Espeel
authors.forename: J C
authors.initials: JC
authors.lastname: Heikoop
authors.forename: J A
authors.initials: JA
authors.lastname: Smeitink
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: D
authors.initials: D
authors.lastname: De Craemer
authors.forename: M
authors.initials: M
authors.lastname: Van den Berg
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
mesh_terms: D002374:Catalase / Q000378:metabolism*; D002648:Child; D002806:Chondrodysplasia Punctata / Q000201:enzymology / Q000473:pathology*; D003593:Cytoplasm / Q000201:enzymology*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006651:Histocytochemistry; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000648:ultrastructure*; D008830:Microbodies / Q000648:ultrastructure*; D008854:Microscopy, Electron; D016253:Microscopy, Immunoelectron
chemical_list: D002374:Catalase