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An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

Abstract：

:In nine patients with GM1 gangliosidosis, liver ganglioside GM1 beta-galactosidase (EC 3.2.1.23) activity ranged from less than 0.01% to 0.05% of normal. In a tenth patient's liver, much higher activity was found (0.5% of normal). In this patient the residual enzyme had the same molecular weight as beta-galactosidase A, the major form of beta-galactosidase of normal human liver. No activity was found that corresponded to beta-galactosidase B, the minor form of human liver beta-galactosidase. On starch gel electrophoresis, the patient's enzyme migrated less anodally than normal beta-galactosidase A, both before and after treatment with neuraminidase. Beta-Galactosidase from the patient had a Km that was higher then normal; 5-fold higher with ganglioside GM1 and 2-fold higher with 4-methylumbelliferyl beta-galactoside. The patient's enzyme crossreacted immunologically with normal beta-galactosidase A and had about 100-fold more antigenic activity per unit catalytic activity than the normal enzyme. The results indicate that in this patient a beta-galactosidase A protein with altered charge and altered catalytic properties was present in relatively normal amounts, the first electrophoretic variant reported for a patient with a lysosomal hydrolase deficiency.

journal_name

Proc Natl Acad Sci U S A

journal_title

Proceedings of the National Academy of Sciences of the United States of America

authors

Norden AG,O'Brien JS

doi

10.1073/pnas.72.1.240

subject

Has Abstract

pub_date

1975-01-01 00:00:00

pages

240-4

issue

1

eissn

0027-8424

issn

1091-6490

journal_volume

72

pub_type

杂志文章

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