Biochemical and ultrastructural studies on an Epstein-Barr virus-transformed lymphoid cell line from a Niemann-Pick disease type C patient.

Abstract

Human lymphoid cell lines established from normal subjects and from a Niemann-Pick disease type C patient were investigated from a triple point of view of enzymology, metabolism and ultrastructure: Sphingomyelinase activities, isoenzyme electrofocusing profiles and properties of the major enzyme were quite similar in type C and normal lymphoid cell lines. Similarly, no significant difference was observed in non-specific phosphodiesterases hydrolysing bis(methylumbelliferyl)phosphate and bis(methylumbelliferyl)pyrophosphate. The study of the lipid composition of type C cells showed no obvious accumulation of sphingomyelin or other phospholipid, but only a higher amount of glycolipids (mainly GlcCer and GbOse3Cer), as visualized by bidimensional thin-layer chromatography. Ultrastructural studies demonstrated, in type C cells, the presence of an obvious lysosomal storage of amphiphilic lipids quite similar to that observed in tissues of type C patients. These studies, which demonstrate the validity of lymphoid cell lines as an experimental model system for type C disease, agree with the current opinion that an impairment of sphingomyelin catabolism is not the primary defect in type C disease.

• Authors: T Levade, A Maret, R Salvayre, N Livni, P Rogalle, L Douste-Blazy
• Journal: Biochimica et biophysica acta (Biochim Biophys Acta) Vol. 877 Issue 3 Pg. 415-22 (Jul 18 1986) ISSN: 0006-3002 [Print] Netherlands
• PMID: 3015220 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Isoenzymes
• Lipids
• Sphingomyelins
• Umbelliferones
• Hymecromone
• bis(4-methylumbelliferyl)pyrophosphate
• Phosphoric Diester Hydrolases
• Sphingomyelin Phosphodiesterase

Topics

• Cell Line
• Cell Transformation, Viral
• Herpesvirus 4, Human
• Humans
• Hydrogen-Ion Concentration
• Hymecromone (analogs & derivatives)
• Isoenzymes (analysis)
• Lipids (analysis)
• Lymphocytes (metabolism, ultrastructure)
• Microscopy, Electron
• Niemann-Pick Diseases (metabolism, pathology)
• Phosphoric Diester Hydrolases (analysis)
• Sphingomyelin Phosphodiesterase (analysis)
• Sphingomyelins (metabolism)
• Umbelliferones (metabolism)