Premium
Biochemical and ultrastructural findings in a lymphoid cell line from Niemann‐Pick disease type A
Author(s) -
Levade T.,
Salvayre R.,
Bes J. C.,
Maret A.,
DousteBlazy L.
Publication year - 1985
Publication title -
biology of the cell
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 85
eISSN - 1768-322X
pISSN - 0248-4900
DOI - 10.1111/j.1768-322x.1985.tb00416.x
Subject(s) - ultrastructure , biology , niemann–pick disease , sphingomyelin , acid sphingomyelinase , myelin , disease , niemann–pick disease, type c , sphingolipid , lymphatic system , microbiology and biotechnology , pathology , immunology , biochemistry , anatomy , endocrinology , cholesterol , central nervous system , medicine
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.