Zellweger syndrome amniocytes - morphological appearance and a simple sedimentation method for prenatal-diagnosis

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dc.contributor.authorLAZAROW, P.B.
dc.contributor.authorSMALL, G.M.
dc.contributor.authorSANTOS, M.
dc.contributor.authorSHIO, H.
dc.contributor.authorMOSER, A.
dc.contributor.authorMOSER, H.
dc.contributor.authorESTERMAN, A.
dc.contributor.authorBLACK, V.
dc.contributor.authorDANCIS, J.
dc.date.issued1988
dc.description.abstractZellweger syndrome is the prototype of a growing group of genetic diseases caused by an absence or deficiency of peroxisomes. The defect causes the enzyme catalase to remain in the cytosol instead of being packaged into peroxisomes. This mislocalization can be easily detected by sedimentation analysis. Amniocytes were homogenized and then centrifuged to pellet organelles. Catalase was found to sediment with the peroxisomes in the homogenates of normal cells, but to remain in the supernatant with Zellweger syndrome amniocyte homogenates. This striking difference is unambiguous and reproducible, and provides a simple method for prenatal diagnosis. Moreover, it allows one to differentiate diseases in which peroxisomes are deficient from other peroxisomal diseases in which the organelle is intact, but one enzyme is defective. Electron microscopic observations support the biochemical determinations. Normal amniocytes contain small peroxisomes in which a weak cytochemical reaction for catalase may be demonstrated. Zellweger amniocytes appear to lack these organelles, although some cells have rare structures that might be residual or abnormal peroxisomes.
dc.description.statementofresponsibilityPaul B Lazarow, Gillian M Small, Manuel Santos, Helen Shio, Ann Moser, Hugo Moser, Abbie Esterman, Virginia Black and Joseph Dancis
dc.identifier.citationPediatric Research, 1988; 24(1):63-67
dc.identifier.doi10.1203/00006450-198807000-00016
dc.identifier.issn0031-3998
dc.identifier.issn1530-0447
dc.identifier.orcidESTERMAN, A. [0000-0001-7324-9171]
dc.identifier.urihttp://hdl.handle.net/2440/117304
dc.language.isoen
dc.publisherSpringer Nature
dc.rights© 1988 International Pediatric Research Foundation, Inc.
dc.source.urihttp://dx.doi.org/10.1203/00006450-198807000-00016
dc.subjectAmnion
dc.subjectMicrobodies
dc.subjectCytosol
dc.subjectHumans
dc.subjectLiver Diseases
dc.subjectBrain Diseases
dc.subjectAdrenoleukodystrophy
dc.subjectKidney Diseases
dc.subjectAbnormalities, Multiple
dc.subjectSyndrome
dc.subject3,3'-Diaminobenzidine
dc.subjectCatalase
dc.subjectMicroscopy, Electron
dc.subjectPrenatal Diagnosis
dc.subjectCentrifugation
dc.subjectCulture Techniques
dc.subjectHistocytochemistry
dc.subjectPregnancy
dc.subjectSonication
dc.subjectFemale
dc.titleZellweger syndrome amniocytes - morphological appearance and a simple sedimentation method for prenatal-diagnosis
dc.typeJournal article
pubs.publication-statusPublished

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