Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s
2012
Uddin, Mohammad M | Tanimoto, Takeshi | Yabuki, Akira | Kotani, Takao | Kuwamura, Mitsuru | Chang, Hye-Sook | Yamato, Osamu
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.
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