title: Sphingomyelinase and nonspecific phosphodiesterase activities in Epstein-Barr virus-transformed lymphoid cell lines from Niemann-Pick disease A, B and C.
abstract: Acid sphingomyelinase activity determined using the natural substrate, [choline-methyl-14C]sphingomyelin, or the chromogenic synthetic analogue, 2-N-(hexadecanoyl)amino-4-nitrophenylphosphorylcholine, was deficient in Epstein-Barr virus-transformed lymphoid cell lines from Niemann-Pick disease types A and B. In contrast, lines from Niemann-Pick disease type C and "sea-blue histiocyte syndrome" showed a sphingomyelinase activity within the normal range. Bis(4-methylumbelliferyl)phosphate and bis(4-methylumbelliferyl)pyrophosphate phosphodiesterase activities were not deficient in any Niemann-Pick disease cell line. These results demonstrate the validity of such cell lines as an experimental model system for enzymatic studies of Niemann-Pick disease.
mesh_terms: D000328:Adult; D002460:Cell Line; D002472:Cell Transformation, Viral; D004854:Herpesvirus 4, Human; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives*; D008214:Lymphocytes / Q000201:enzymology; D009542:Niemann-Pick Diseases / Q000201:enzymology*; D010727:Phosphoric Diester Hydrolases / Q000378:metabolism*; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism*; D013109:Sphingomyelins / Q000378:metabolism; D014468:Umbelliferones / Q000378:metabolism
chemical_list: D013109:Sphingomyelins; D014468:Umbelliferones; D006923:Hymecromone; C013847:bis-(4-methylumbelliferyl)phosphate; C041066:bis(4-methylumbelliferyl)pyrophosphate; D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase