Epstein-Barr virus transformed lymphoid cell lines as a new model system in culture for the study of GM2-gangliosidoses: Tay-Sachs and Sandhoff diseases.
Epstein-Barr Virus transformed cell lines (LCL) were established from blood B-lymphocytes of patients affected with GM2-gangliosidoses variant O (Sandhoff disease, SD) and variant B (Tay-Sachs disease, TSD). LCL from SD showed a severe deficiency of activity of the major lysosomal beta-N-acetylhexosaminidase isoenzymes, Hex A and B; the residual activity was due to Hex S and Hex C. In LCL from TSD, the whole Hex activity was not deficient but isoenzyme composition was completely abnormal. Ultrastructural investigations showed the presence of pleiomorphic enlarged lysosomes appearing as clear vacuoles containing a finely fibrillo-granular material characteristic of the visceral lysosomal storage of gangliosidoses.
Maret
A
A
Salvayre
R
R
Negre
A
A
Bes
J C
JC
Douste-Blazy
L
L
D000328:Adult; D001402:B-Lymphocytes / Q000201:enzymology* / Q000648:ultrastructure; D002460:Cell Line; D002472:Cell Transformation, Viral; D002648:Child; D004854:Herpesvirus 4, Human; D054818:Hexosaminidase A; D006596:Hexosaminidases / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D012497:Sandhoff Disease / Q000201:enzymology* / Q000473:pathology; D013661:Tay-Sachs Disease / Q000201:enzymology* / Q000473:pathology; D001619:beta-N-Acetylhexosaminidases
D006596:Hexosaminidases; D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases