Immunological studies on lysosomal sphingomyelinase: Identification of a 28 000-Da component deficient in urine from patients with Niemann-Pick disease types A and B |
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| Authors: | André W. Schram Marianne Dreissen Johan Bastiaannet Wilma E. Donker-Koopman Elisabeth M. Brouwer-Kelder Gabriele Weitz John A. Barranger Konrad Sandhoff Joseph M. Tager |
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| Affiliation: | (1) Section for Medical Enzymology and Metabolism, Laboratory of Biochemistry, University of Amsterdam, P.O. Box 20151, 1000 HD Amsterdam, The Netherlands;(2) Institute of Organic Chemistry and Biochemistry, University of Bonn, Gerhard-Domagkstrasse 1, D-5300 Bonn, Germany;(3) Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Diseases and Stroke, National Institutes of Health, 20205 Bethesda, MD, USA |
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| Abstract: | The immunoblotting technique was used to identify sphingomyeJinase protein in samples of tissue and urine after subjection to poIyacrylamide-gel etectrophoresis in the presence of sodium dodecyl sulphate. In a sphingomyelinase preparation purified from control urine a prominent band was seen with an Mr of 28 000 Da. Glycoprotein fractions from urine and placenta, a membrane extract from spleen, and a partially purified sphingomyelinase preparation from placenta contained the 28 000-Da band plus additional, higher-Mr bands. The 28 000-Da band was detectable in urine from a patient with Niemann-Pick disease type C, but not in urine from patients with Niemann-Pick disease types A and B. It is concluded t h a t sphingomyeJinase is composed of at least one polypeptide with an Mr of 28 000 Da and that this polypeptide is deficient in the urine of patients with Niemann-Pick disease types A and B. |
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