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Cerebroside-beta-glucosidase activity in Gaucher brain.

L Svennerholm, J E Månsson, B Rosengren

Clinical Genetics

|August 1, 1986

Summary

Gaucher disease types show reduced cerebroside-beta-glucosidase activity in the brain. The natural substrate best differentiates infantile and Norrbottnian types of this lysosomal storage disorder.

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Area of Science:

Biochemistry
Genetics
Neurology

Background:

Gaucher disease is a lysosomal storage disorder caused by deficient activity of the enzyme cerebroside-beta-glucosidase (acid beta-glucosidase).
Distinct clinical subtypes, including infantile and Norrbottnian types, exhibit varying severity and progression.
Accurate enzymatic assays are crucial for diagnosis and subtyping.

Purpose of the Study:

To quantify cerebroside-beta-glucosidase activity in the forebrain of patients with different Gaucher disease types.
To compare the efficacy of natural and artificial substrates in discriminating between infantile and Norrbottnian Gaucher disease.

Main Methods:

Enzyme activity assays were performed on forebrain tissue from Gaucher disease patients (infantile, Norrbottnian, mixed) and age-matched controls.
Both a natural substrate ((glucose-6-3H) nervonoylglucosylsphingosine) and an artificial fluorogenic substrate (4-methyl-umbelliferyl-beta-glucoside) were utilized.

Main Results:

Significantly reduced average residual beta-glucosidase activities were observed: 5% in infantile type and 12% in Norrbottnian type.
The natural substrate provided optimal discrimination between the infantile and Norrbottnian forms of Gaucher disease.

Conclusions:

Cerebroside-beta-glucosidase deficiency is a hallmark of Gaucher disease, with distinct residual activity levels in different subtypes.
Employing natural substrates in enzymatic assays enhances the ability to differentiate between specific Gaucher disease phenotypes.

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