title: Lymphoid cell lines as a model system for the study of Wolman's disease: enzymatic, metabolic and ultrastructural investigations.
abstract: Epstein-Barr virus (EBV) transformed lymphoid cell lines (LCL) were established from blood lymphocytes of a patient affected with Wolman's disease (WD) and from her parents. These LCL showed a severe deficiency in acid lipase activity using every substrate in comparison to LCL from normal subjects, in which acid lipase activity was similar to that in blood lymphocytes. In the LCL from Wolman's disease a major accumulation of neutral lipids was observed, mainly cholesteryl esters, CE (amount around 7 times higher than in normal cells and ratio of esterified/free cholesterol increased by 10 times) and to a lesser extent triglycerides, TG (amount increased by 1.5 times). Electron microscopy showed the storage vacuoles of neutral lipids quite characteristic of this lysosomal disease. The reported data demonstrated the validity of transformed LCL as a cellular model system in culture for experimental studies of Wolman's disease and for investigating the lysosomal metabolism of neutral lipids.
mesh_terms: D002460:Cell Line; D002472:Cell Transformation, Viral; D002788:Cholesterol Esters / Q000378:metabolism; D004854:Herpesvirus 4, Human; D006801:Humans; D008049:Lipase / Q000172:deficiency; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology; D008214:Lymphocytes / Q000378:metabolism* / Q000648:ultrastructure; D008247:Lysosomes / Q000473:pathology; D008854:Microscopy, Electron; D014280:Triglycerides / Q000378:metabolism; D014617:Vacuoles / Q000473:pathology
chemical_list: D002788:Cholesterol Esters; D014280:Triglycerides; D008049:Lipase