title: Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies.
abstract: Peroxisomes are ubiquitous organelles in eukaryotic cells and surrounded by a single membrane, and undergo considerable changes in size, shape and number. Peroxisomal disorders are classified into two categories: peroxisome biogenesis disorders (PBDs) and single-enzyme deficiencies (SEDs). Morphologically aberrant peroxisomes called 'peroxisomal ghosts' in PBDs are well known, however, a morphological approach to the study of peroxisomes in SEDs has been rarely reported. Here, we investigated the morphology of peroxisomes in cultured fibroblasts from patients lacking peroxisomal beta-oxidation enzymes, including acyl-CoA oxidase (AOX) or D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (D-BP). Morphological analysis by immunofluorescence examination using an antibody against catalase revealed a smaller number of large peroxisomes in fibroblasts from these patients. Moreover, immunoelectron microscopy using an antibody against the 70-kDa peroxisomal membrane protein (PMP70) showed large peroxisomes with various horseshoe-shaped membrane structures. These results give an important clue to elucidating the division of peroxisomes and how peroxisomes change in size, shape, number and position within cells, which are subjects for future study.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu 501-1194, Japan. mfunato@mac.com
authors.forename: Michinori
authors.initials: M
authors.lastname: Funato
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Tomoko
authors.initials: T
authors.lastname: Nagase
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Takemoto
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Imamura
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Toshiro
authors.initials: T
authors.lastname: Tsukamoto
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kojidani
authors.forename: Takashi
authors.initials: T
authors.lastname: Osumi
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Fukao
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency; D042962:Acyl-CoA Oxidase / Q000172:deficiency; D000328:Adult; D002478:Cells, Cultured; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D004746:Enoyl-CoA Hydratase / Q000172:deficiency; D005347:Fibroblasts / Q000166:cytology*; D005455:Fluorescent Antibody Technique / Q000379:methods; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency; D007223:Infant; D007535:Isomerases / Q000172:deficiency; D046529:Microscopy, Electron, Transmission / Q000379:methods; D009097:Multienzyme Complexes / Q000172:deficiency; D063994:Peroxisomal Bifunctional Enzyme; D018901:Peroxisomal Disorders / Q000201:enzymology* / Q000473:pathology*; D020675:Peroxisomes / Q000201:enzymology* / Q000473:pathology* / Q000648:ultrastructure
chemical_list: D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; D042962:Acyl-CoA Oxidase; C065185:D-3-hydroxyacyl CoA dehydratase; D006836:Hydro-Lyases; C576253:EHHADH protein, human; D004746:Enoyl-CoA Hydratase; D063994:Peroxisomal Bifunctional Enzyme; D007535:Isomerases