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- Title
Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.
- Authors
Uddin, Mohammad M; Tanimoto, Takeshi; Yabuki, Akira; Kotani, Takao; Kuwamura, Mitsuru; Chang, Hye-Sook; Yamato, Osamu
- 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.
- Subjects
JAPAN; TAY-Sachs disease; NEURODEGENERATION; LYSOSOMAL storage diseases; GALACTOSIDASES; GENETIC polymorphisms; SIAMESE cat
- Publication
Journal of Feline Medicine & Surgery, 2012, Vol 14, Issue 12, p900
- ISSN
1098-612X
- Publication type
Article
- DOI
10.1177/1098612X12454120