Beta-galactosidase-deficient Mouse As an Animal Model for GM1-gangliosidosis

Overview

Journal Glycoconj J

Publisher Springer

Specialties Biochemistry
Endocrinology

Date 1997 Oct 23

PMID 9337086

Citations 24

Authors

J Matsuda

O Suzuki

A Oshima

A Ogura

Y Noguchi

Y Yamamoto

T Asano

K Takimoto

K Sukegawa

Y Suzuki

M Naiki

Affiliations

Soon will be listed here.

Abstract

GM1-gangliosidosis is a progressive neurological disease in humans caused by deficiency of lysosomal acid beta-galactosidase, which hydrolyses the terminal beta-galactosidic residue from ganglioside GM1 and other glycoconjugates. In this study, we generated a mouse model for GM1-gangliosidosis by gene targeting in embryonic stem cells. The mouse homozygous for the disrupted beta-galactosidase gene showed beta-galactosidase deficiency, presented with progressive spastic diplegia, and died of emaciation at 7-10 months of age. Pathologically, PAS-positive intracytoplasmic storage was observed in neuronal cells of various areas in the brain. Biochemical analysis revealed a marked accumulation of ganglioside GM1 and asialo GM1 in brain tissue. This animal model will be useful for pathogenetic analysis and therapeutic trial of human GM1-gangliosidosis.

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