Biochemical and ultrastructural findings in a lymphoid cell line from Niemann-Pick disease type A

Biol Cell. 1985;55(1-2):143-6. doi: 10.1111/j.1768-322x.1985.tb00416.x.

Abstract

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • B-Lymphocytes / enzymology*
  • B-Lymphocytes / ultrastructure
  • Cell Line
  • Glycoside Hydrolases / metabolism
  • Humans
  • Infant, Newborn
  • Microscopy, Electron
  • Niemann-Pick Diseases / enzymology*
  • Niemann-Pick Diseases / pathology
  • Phosphoric Diester Hydrolases / metabolism*
  • Reference Values
  • Sphingomyelin Phosphodiesterase / metabolism*

Substances

  • Phosphoric Diester Hydrolases
  • Sphingomyelin Phosphodiesterase
  • Glycoside Hydrolases