High frequency of beta-hexosaminidase deficiency in lymphoblastoid cell lines.
The activity of seven lysosomal enzymes was determined in 25 lymphoblastoid cell lines. These lines included normal controls transformed with Epstein-Barr virus, Burkitt's lymphomas and other lymphomas with or without EBV genome. Four lines were deficient in total beta-hexosaminidase activity. The deficiency was as severe as that of the variant O (Sandhoff's disease) of clinical beta-hexosaminidase deficiency. The electrophoretic pattern was also similar to that observed in Sandhoff's disease. The possible mechanisms explaining the high frequency of beta-hexosaminidase deficiency in lymphoblastoid cell lines are discussed.
D000936:Antigen-Antibody Complex; D002051:Burkitt Lymphoma / Q000201:enzymology; D002460:Cell Line; D002471:Cell Transformation, Neoplastic; D004854:Herpesvirus 4, Human / Q000235:genetics; D006596:Hexosaminidases / Q000172:deficiency*; D006801:Humans; D007106:Immune Sera; D008214:Lymphocytes / Q000201:enzymology*; D008223:Lymphoma / Q000201:enzymology*; D001619:beta-N-Acetylhexosaminidases
D000936:Antigen-Antibody Complex; D007106:Immune Sera; D006596:Hexosaminidases; D001619:beta-N-Acetylhexosaminidases