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.