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Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.
- Source :
-
Journal of feline medicine and surgery [J Feline Med Surg] 2012 Dec; Vol. 14 (12), pp. 900-2. Date of Electronic Publication: 2012 Jul 06. - Publication Year :
- 2012
-
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.
Details
- Language :
- English
- ISSN :
- 1532-2750
- Volume :
- 14
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Journal of feline medicine and surgery
- Publication Type :
- Academic Journal
- Accession number :
- 22772479
- Full Text :
- https://doi.org/10.1177/1098612X12454120