PMID: 8581356Apr 1, 1995Paper

Sulfatide and sphingomyelin loading of living cells as tools for the study of ceramide turnover by lysosomal ceramidase--implications for the diagnosis of Farber disease

Biochemical and Molecular Medicine
Thierry LevadeR Salvayre

Abstract

The ceramide turnover by lysosomal ceramidase in intact, living cells was investigated by loading radiolabeled sulfatide or sphingomyelin in situ on skin fibroblasts and lymphoid cells. The cells originated from normal individuals and from patients with acid ceramidase deficiency (Farber disease). While fibroblasts from individuals with Farber disease exhibited some impairment in the degradation of the ceramide produced by sulfatide hydrolysis, lymphoid cells from individuals with Farber disease metabolized the ceramide as readily as did normal cells, suggesting the existence in lymphoid cells of a non-lysosomal degradation pathway for the sulfatide-derived ceramide. In contrast, sphingomyelin loading in the presence of serum showed a considerably decreased turnover of ceramide in both fibroblasts and lymphoid cells from individuals with Farber disease. Further methodologic variation led to the use of LDL-associated radioactive sphingomyelin; LDL-association promoted the targeting of exogenous sphingomyelin to lysosomes. As a result, an almost complete deficiency of ceramide degradation was found in cells from severely affected patients with Farber disease. Our data with this novel method show that sphingomyelin loading of inta...Continue Reading

Citations

Feb 9, 1996·Clinica Chimica Acta; International Journal of Clinical Chemistry·M ChatelutT Levade
Jul 9, 2010·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·L Cvitanovic-SojatT Levade
Sep 20, 2000·Molecular Genetics and Metabolism·Z ZhangA B Mukherjee
Jul 3, 2007·Pediatric Rheumatology Online Journal·Karoline EhlertJosef Vormoor
Nov 10, 2007·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Asha WillisRaffaella A Morotti
Sep 22, 2000·Current Review of Pain·O CalvilloJ Turnipseed

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