Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1992-03-01

AUTHORS

Shigehiro Yajima, Yasuyuki Suzuki, Nobuyuki Shimozawa, Seiji Yamaguchi, Tadao Orii, Yukio Fujiki, Takashi Osumi, Takashi Hashimoto, Hugo W. Moser

ABSTRACT

Genetic heterogeneity in peroxisome-deficient disorders, including Zellweger's cerebrohepatorenal syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease, was investigated. Fibroblasts from 17 patients were fused using polyethylene glycol, cultivated on cover slips, and the formation of peroxisomes in the fused cells was visualized by immunofluorescence staining, using anti-human catalase IgG. Two distinct staining patterns were observed: (1) peroxisomes appeared in the majority of multinucleated cells, and (2) practically no peroxisomes were identified. Single step 12-(1′-pyrene) dodecanoic acid/ultraviolet (P12/UV)-selection confirmed that the former groups were resistant to this selection, most of the surviving cells contained abundant peroxisomes, and the latter cells died. In the complementary matching, [1-14C]lignoceric acid oxidation and the biosynthesis of peroxisomal proteins were also normalized. Five complementation groups were identified. Group A: Zellweger syndrome and infantile Refsum disease; Groups B, C and D: Zellweger syndrome; Group E: Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. We compared these groupings with those of Roscher and identified eight complementation groups. There was no obvious relation between complementation groups and clinical phenotypes. These results indicate that the transport, intracellular processing and function of peroxisomal proteins were normalized in the complementary matching and that at least eight different genes are involved in the formation of normal peroxisomes and in the transport of peroxisomal enzymes. More... »

PAGES

491-499

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00219334

DOI

http://dx.doi.org/10.1007/bf00219334

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1003521077

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/1372585


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