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Published in: Virchows Archiv 4/2007

01-10-2007 | Original Article

Cellular and tissue localization of globotriaosylceramide in Fabry disease

Authors: Hasan Askari, Christine R. Kaneski, Cristina Semino-Mora, Priya Desai, Agnes Ang, David E. Kleiner, Lorah T. Perlee, Martha Quezado, Linda E. Spollen, Brandon A. Wustman, Raphael Schiffmann

Published in: Virchows Archiv | Issue 4/2007

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Abstract

The pathogenesis of Fabry disease is poorly understood. We used a variety of immunohistological techniques to localize globotriaosylceramide, the main glycolipid that accumulates in Fabry disease. Globotriaosylceramide immunoreactivity in a heterogenous pattern was present in all organs examined of a patient on long-term enzyme replacement therapy. In the brain, immmunopositivity was found only in the parahippocampal region. Globotriaosylceramide immunostaining was present in the cell membrane and cytoplasm of endothelial cells, even in the absence of lysosomal inclusions. In kidney tissue, globotriaosylceramide colocalized with lysosomal, endoplasmic reticulum, and nuclear markers. Pre- and postembedding immunogold electron microscopy of skin biopsies and untreated patient cultured skin fibroblasts confirmed the presence of globotriaosylceramide in the cell membrane, in various cytoplasmic structures, and in the nucleus. Control organ tissues and cultured fibroblasts from five unaffected subjects were uniformly negative for globotriaosylceramide by immunohistochemistry and immunogold electron microscopy. We conclude that a substantial amount of lysosomal and extralysosomal globotriaosylceramide immunoreactivity remains in cells and tissues even after years of enzyme replacement therapy in Fabry disease. These findings are crucial for the understanding of the disease mechanism and suggest the usefulness of immunostaining for globotriaosylceramide as a means to assess response to novel, specific therapies.
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Metadata
Title
Cellular and tissue localization of globotriaosylceramide in Fabry disease
Authors
Hasan Askari
Christine R. Kaneski
Cristina Semino-Mora
Priya Desai
Agnes Ang
David E. Kleiner
Lorah T. Perlee
Martha Quezado
Linda E. Spollen
Brandon A. Wustman
Raphael Schiffmann
Publication date
01-10-2007
Publisher
Springer-Verlag
Published in
Virchows Archiv / Issue 4/2007
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-007-0468-6

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