Literature DB >> 9337086

Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis.

J Matsuda1, O Suzuki, A Oshima, A Ogura, Y Noguchi, Y Yamamoto, T Asano, K Takimoto, K Sukegawa, Y Suzuki, M Naiki.   

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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Year:  1997        PMID： 9337086     DOI： 10.1023/a:1018573518127

Source DB:  PubMed          Journal:  Glycoconj J        ISSN： 0282-0080            Impact factor:   2.916


  30 in total

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