Biochemical and ultrastructural findings in a lymphoid cell line from Niemann-Pick disease type A.
A lymphoid cell line (LCL) established by Epstein-Barr Virus (EBV)-transformation of blood B-lymphocytes from a patient affected with Niemann-Pick disease (NPD) Type A exhibited a severe deficiency of sphingomyelinase activity (less than 10% residual activity). Ultrastructural investigation showed in LCL from NPD type A, the presence of numerous osmiophilic, electron-dense inclusions with myelin-like figures characteristic of the accumulation of sphingomyelin (and other amphiphilic lipids) similar to those observed in tissues of patients affected with NPD.
D000328:Adult; D001402:B-Lymphocytes / Q000201:enzymology* / Q000648:ultrastructure; D002460:Cell Line; D006026:Glycoside Hydrolases / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008854:Microscopy, Electron; D009542:Niemann-Pick Diseases / Q000201:enzymology* / Q000473:pathology; D010727:Phosphoric Diester Hydrolases / Q000378:metabolism*; D012016:Reference Values; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism*
D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase; D006026:Glycoside Hydrolases