Gaucher's Disease: Deficiency of “cid”β-Glucosidase and Reconstitution of Enzyme Activity In Vitro

MW Ho, JS O'Brien - … of the National Academy of Sciences, 1971 - National Acad Sciences
MW Ho, JS O'Brien
Proceedings of the National Academy of Sciences, 1971National Acad Sciences
The spleen from a patient with adult Gaucher's disease was shown to be deficient in a β-
glucosidase (EC 3.2. 1.21) isoenzyme that has optimal activity at pH 4.0-4.3, and is
stimulated by 0.02% Triton X-100. A mixture of spleen homogenates from a control and from
the patient contained β-glucosidase activity equivalent to 2-3 times the theoretical expected
activity. The increase in enzyme activity occurred at pH 4.0-4.3; the magnitude of the
increase was proportional to the amount of each homogenate added. Two factors, one …
The spleen from a patient with adult Gaucher's disease was shown to be deficient in a β-glucosidase (EC 3.2.1.21) isoenzyme that has optimal activity at pH 4.0-4.3, and is stimulated by 0.02% Triton X-100. A mixture of spleen homogenates from a control and from the patient contained β-glucosidase activity equivalent to 2-3 times the theoretical expected activity. The increase in enzyme activity occurred at pH 4.0-4.3; the magnitude of the increase was proportional to the amount of each homogenate added. Two factors, one called factor P from the patient's spleen, the other called factor C from the control spleen, were responsible for a reconstitution of β-glucosidase activity in vitro. Factor P is tentatively identified as an acid glycoprotein.
National Acad Sciences