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PMID: 15918012 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study.

Virchows Archiv : an international journal of pathology ·Vol. 447 ·No. 1 ·2005-07-00 ·Pages 31-44

Hůlková H, Ledvinová J, Asfaw B, Koubek K, Kopriva K, Elleder M

Abstract

Immunohistochemical studies of the presence of lactosylceramide (LacCer) in lysosomal storage disorders (LSDs) were done using anti-LacCer monoclonal antibody of the CDw 17 type (clone MG-2). No sign of an association between LacCer and the lysosomal system in normal cells was observed, except for histiocytes active in phagocytosis. A comparative study of a group of LSDs showed a general tendency for LacCer to increase in storage cells in Niemann-Pick disease type C (NPC), and types A and B, GM1 gangliosidosis, acid lipase deficiency, glycogen storage disease type II and mucopolysaccharidoses. LacCer accumulated in storage cells despite normal activity of relevant lysosomal degrading enzymes. The accumulation of LacCer displayed variability within storage cell populations, and was mostly expressed in neurons in NPC. An absence of the increase in LacCer in storage cells above control levels was seen in neuronal ceroid lipofuscinoses (neurons and cardiocytes) and in Fabry disease. Gaucher and Krabbe cells showed significantly lower levels, or even the absence, of LacCer compared with control macrophages. Results of immunohistochemistry were corroborated by semiquantitative lipid thin-layer chromatography (TLC). It is suggested that different associations of LacCer with the lysosomal storage process may reflect differences in glycosphingolipid turnover induced by the storage-compromised lysosomal/endosomal system.

MeSH Terms
Adult Antigens, CD/analysis,metabolism Biomarkers/analysis Cerebral Cortex/chemistry,metabolism,pathology Child Chromatography, Thin Layer/methods Histiocytes/chemistry,metabolism,pathology Humans Immunohistochemistry/methods Lactosylceramides/analysis,metabolism Liver/chemistry,metabolism,pathology Lysosomal Storage Diseases/classification,metabolism,pathology Macrophages/chemistry,metabolism,pathology Neurons/chemistry,metabolism,pathology Spleen/chemistry,metabolism,pathology
Chemicals
Antigens, CD Biomarkers Lactosylceramides CDw17 antigen
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Hůlková H
Institute of Inherited Metabolic Disorders, Charles University, First Faculty of Medicine and University Hospital, Ke Karlovu 2 128 08, 128 08, Prague 2, Czech Republic.
Ledvinová J
Asfaw B
Koubek K
Kopriva K
Elleder M
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Article Info
Journal
Virchows Archiv : an international journal of pathology
Abbr.
Virchows Arch
ISSN
0945-6317
DOI
10.1007/s00428-005-1246-y
Published
2005-07-00
Epub
2005-00-26
Pages
31-44
Language
English
Region
Germany
NLM ID
9423843
Subset
IM
External Links
PubMed source DOI: 10.1007/s00428-005-1246-y View journal details
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