Hepatic Beta Galactosidase and Feline Gmi Gangliosidosis

Abstract

This paper describes the clinical, morphological and biochemical features of three cats with a progressive neurological disorder. Clinical features were ataxia and progressive tremor. The morphological characteristics were those of lysosomal storage disease affecting neurones of the central nervous system and autonomic ganglia; membranous cytoplasmic bodies were demonstrated by electron microscopy in cerebral neurones. Chemical analysis of brain from two of the cats revealed an increased content of total gangliosides, sialic acid and a specific increase in GMI ganglioside. Enzyme analysis of homogenates of leucocytes, spleen and brain showed less than 5% or normal 4-methylumbelliferyl-beta galactosidase (4MU-beta gal) activity. In liver, activity was markedly reduced at pH values below 4.2, but there was considerable activity above this value. The properties of 4MU-beta gal in normal and diseased feline livers were investigated. Sephadex gel filtration of diseased liver homogenates showed an absence of two thermolabile "acid' components, and reduced activity of a third thermostable "neutral' component. The biochemical abnormalities found in the diseased cats are similar to those found in human juvenile GMI gangliosidosis (type 2).

Identification of Bangladeshi Domestic Cats with GM1 Gangliosidosis Caused by the c.1448G>C Mutation of the Feline <i>GLB1</i> Gene: Case Study

“…The disease has also been reported in non-pure breed domestic cats in the United Kingdom [3][4][5] and Japan [8,10]. In general, affected cats manifest neurological signs of progressive motor dysfunctions starting from 4 to 6 months of age and die prematurely by approximately 1 year of age.…”

“…As mentioned above, GM1 gangliosidosis has already been reported in non-pure breed domestic cats in the United Kingdom [3][4][5] and Japan [8,10], although molecular diagnoses have yet to be made. The disease in these domestic cats might have been caused by the c.1448G>C mutation.…”

GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan

“…Feline GM1 gangliosidosis has been reported in Siamese cats in Japan [ 7 ] and the United States [ 2 ] and in Korat cats in Italy [ 6 ]. The disease also has been reported in non-purebred domestic cats in the United Kingdom [ 1 , 4 , 5 , 15 ], Japan [ 11 , 14 ] and Bangladesh [ 18 ]. To date, only one pathogenic mutation has been identified as a single nucleotide substitution from guanine to cytosine in exon 14 at nucleotide position 1448 (c.1448G>C) in the coding region of the feline GLB1 gene, resulting in the substitution of arginine with proline at amino acid position 483 (p.R483P).…”

Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s

“…1 Feline GM1 gangliosidosis was first reported in Siamese cats in 1971 in Japan 2 and the USA 3 as different occurrences at the respective locations. Subsequently, the disease was reported in mixed-breed cats in the UK [4][5][6] and Korat cats in Italy. 7 In general, affected cats manifest neurological signs of progressive motor dysfunctions starting from 4 to 6 months of age and die prematurely at approximately 1 year of age.…”