Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue
Author:
Harzer Klaus1, Yildiz Yildiz2, Beck-Wödl Stefanie3
Affiliation:
1. Department of Neuropediadrics, Neurometabolic Laboratory, Children’s Hospital , University of Tübingen , Hoppe-Seyler-Str. 1 , D-72076 Tübingen , Germany 2. Internal Medicine , Medicnova Hospital , Selemad 10 , FL-9487 Gamprin-Bendern , Liechtenstein 3. Department of Medical Genetics and Applied Genomics , University of Tübingen , Calwerstr. 7 , D-72076 Tübingen , Germany
Abstract
Abstract
Beta (β)-glucosidase 2 (GBA2) is deficient in a form of human spastic paraplegia due to defects in GBA2 (SPG46). GBA2 was proposed as a modifier of Gaucher disease, a lysosomal storage disease resulting from deficient β-glucosidase 1; GBA1. Current GBA2 activity assays using artificial substrates incompletely model the activity encountered in vivo. We studied GBA2 activity, using lithocholic acid β-glucoside or glucosylceramide as natural β-glucosidase substrates in murine tissues or cultured patient fibroblasts with the pathologic genotypes: Gba1−/−
; Gba2−/−
; GBA1−/−
; GBA2+/−
and found expected and unexpected deviations from normal controls.
Publisher
Walter de Gruyter GmbH
Subject
Clinical Biochemistry,Molecular Biology,Biochemistry
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