Immunochemical and Biochemical Investigation of Hexosaminidase S

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1977 Sep 1

PMID 409285

Citations 8

Authors

B Geiger

R Arnon

K Sandhoff

Affiliations

Soon will be listed here.

Abstract

Hexosaminidase S (HEX S), the residual isozyme found in tissues and body fluids of children with the O variant of GM2 gangliosidosis, was purified from tissues of variant individuals and biochemically and immunochemically characterized. This enzyme has an apparent molecular weight of 103,000 with an isoelectric point of 4.2, is heat labile to the same extent as HEX A, and loses most of its activity following heating for 30 min at 50 degrees C. HEX S reacts immunologically with the antisera against either HEX A or B, but the reaction is considerably stronger with the anti-A serum or with antibody preparations which react exclusively with the A isozyme. Results obtained by a radioimmunoassay using the various antisera indicated that there is no antigenically cross reacting material which lacks enzymatic activity in the variant tissues. These findings are in accord with a suggested molecular structure of two subunits, each composed of two alpha chains (alpha2 alpha2) for HEX S; it also implies that alpha and beta chains have some structural similarity which is manifested in antigenic cross-reactivity.

Citing Articles

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Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.

Zampieri S, Cattarossi S, Oller Ramirez A, Rosano C, Lourenco C, Passon N PLoS One. 2012; 7(7):e41516.

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Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates.

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Human biochemical genetics of enzyme proteins in the new age of molecular genetics.

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Normal adult with absent HEX A: immunoreactive HEX A is present.

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