IMMUNOHISTOCHEMISTRY FOR A BIFUNCTIONAL PROTEIN IN PATIENTS WITH PEROXISOMAL DISORDERS

Immunohistochemical studies using antisera against bifunctional protei n, a beta-oxidation enzyme, were performed on liver, kidney, and brain tissue specimens from patients with peroxisomal disorders and from co ntrols to investigate the distribution and development of peroxisomes. Bifunctional protein-positive granules were not found in patients wit h Zellweger syndrome or neonatal adrenoleukodystrophy, whereas positiv e immunoreactivity was observed from 8 and 6 weeks gestation in the li ver and kidney, respectively, and in the brain, from 23-25 weeks in th e brainstem neurons and from 12-14 weeks in the white matter glia, in controls. Bifunctional protein immunoreactivity then increased with ge station in the brain. These results suggest that bifunctional protein immunohistochemistry is useful for the detection of peroxisomes, which are closely related to neuronal maturation and gliogenesis in premyel ination in human brain development.