title: Developmental and pathological expression of peroxisomal enzymes: their relationship of D-bifunctional protein deficiency and Zellweger syndrome.
abstract: We present the developmental changes of peroxisomal enzymes, catalase, L-bifunctional protein (L-BF) and D-bifunctional protein (D-BF), in the normal brains, and patients with D-BF deficiency, a new peroxisomal disease. D-BF immunoreactivity was observed in controls as early as 13 gestational weeks (GW) and increased with maturation. The adult pattern with fine granule staining of somata and dendrites became apparent in adolescence. L-BF appeared at 20 GW in the cerebral cortex and Purkinje cells and positive glia appeared early in the white matter at 17 GW, and then increased with age. Catalase-positive neurons were identified in the same manner as L-BF, D-BF deficiency in both fetus and infant showed markedly diminished enzyme immunoreactivity. Patients demonstrate reduced D-BF expression. Zellweger syndrome shows decreased expression for the three proteins. This study shows that the peroxisomal enzymes may be closely related to neuronal maturation and gliogenesis in human brain and to disturbance of neuronal migration as seen in Zellweger syndrome significant. D-BF deficiency may exhibit a range of symptoms during the neonatal and early infantile periods some of which may be similar to Zellweger syndrome.
authors.affiliation: Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, Japan. itoh@ncnp.go.jp
authors.forename: M
authors.initials: M
authors.lastname: Itoh
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Akaboshi
authors.forename: Z
authors.initials: Z
authors.lastname: Zhang
authors.forename: S
authors.initials: S
authors.lastname: Miyabara
authors.forename: S
authors.initials: S
authors.lastname: Takashima
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases; D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000378:metabolism*; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000201:enzymology / Q000254:growth & development / Q000473:pathology; D002374:Catalase / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004746:Enoyl-CoA Hydratase / Q000378:metabolism; D005260:Female; D005865:Gestational Age; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency* / Q000378:metabolism*; D015151:Immunoblotting; D007150:Immunohistochemistry; D007223:Infant; D007535:Isomerases; D008099:Liver / Q000201:enzymology / Q000473:pathology; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000378:metabolism*; D009457:Neuroglia / Q000201:enzymology / Q000473:pathology; D009474:Neurons / Q000201:enzymology / Q000473:pathology; D063994:Peroxisomal Bifunctional Enzyme; D018901:Peroxisomal Disorders / Q000201:enzymology* / Q000473:pathology; D064029:Peroxisomal Multifunctional Protein-2; D020675:Peroxisomes / Q000201:enzymology*; D011689:Purkinje Cells / Q000201:enzymology; D012016:Reference Values; D015211:Zellweger Syndrome / Q000201:enzymology* / Q000473:pathology
chemical_list: D009097:Multienzyme Complexes; D015067:17-Hydroxysteroid Dehydrogenases; D015094:3-Hydroxyacyl CoA Dehydrogenases; D002374:Catalase; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human; C576253:EHHADH protein, human; D004746:Enoyl-CoA Hydratase; D063994:Peroxisomal Bifunctional Enzyme; D007535:Isomerases