title: Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.
abstract: GM1 gangliosidosis is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the β-galactosidase (GLB1) gene. In feline GM1 gangliosidosis, a pathogenic mutation (c.1448G>C) of the feline GLB1 gene was identified in Siamese and Korat cats previously diagnosed with the disease in the USA and Italy, respectively. The present study demonstrated the same mutation in a Siamese cat that had been diagnosed with GM1 gangliosidosis in Japan in the 1960s. The mutation was confirmed using DNA extracted from stored paraffin-embedded brain tissue by a direct sequencing method and a polymerase chain reaction-restriction fragment length polymorphism assay. This pathogenic mutation seems to have been distributed around the world.
authors: Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Japan.
authors: Mohammad M
authors: MM
authors: Uddin
authors: Takeshi
authors: T
authors: Tanimoto
authors: Akira
authors: A
authors: Yabuki
authors: Takao
authors: T
authors: Kotani
authors: Mitsuru
authors: M
authors: Kuwamura
authors: Hye-Sook
authors: HS
authors: Chang
authors: Osamu
authors: O
authors: Yamato
mesh_terms: D000818:Animals; D002371:Cat Diseases / Q000235:genetics*; D002415:Cats; D004252:DNA Mutational Analysis / Q000662:veterinary; D016537:Gangliosidosis, GM1 / Q000662:veterinary*; D005787:Gene Frequency; D009154:Mutation; D001616:beta-Galactosidase / Q000235:genetics*
chemical_list: D001616:beta-Galactosidase