title: Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study.
abstract: GM1 gangliosidosis is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations in the β-galactosidase (GLB1) gene. In feline GM1 gangliosidosis, a pathogenic mutation (c.1448G>C) in the feline GLB1 gene was identified in Siamese cats in the United States and Japan and in Korat cats in Western countries. The present study found the homozygous c.1448G>C mutation in 2 apparent littermate native kittens in Bangladesh that were exhibiting neurological signs. This is the first identification of GM1 gangliosidosis in native domestic cats in Southeast Asia. This pathogenic mutation seems to have been present in the domestic cat population in the Siamese region and may have been transferred to pure breeds such as Siamese and Korat cats originating in this region.
authors.affiliation: Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Kohrimoto, Kagoshima 890-0065, Japan.
authors.forename: Mohammad Mejbah
authors.initials: MM
authors.lastname: Uddin
authors.forename: Mohammad Alamgir
authors.initials: MA
authors.lastname: Hossain
authors.forename: Mohammad Mahbubur
authors.initials: MM
authors.lastname: Rahman
authors.forename: Morshedul Alam
authors.initials: MA
authors.lastname: Chowdhury
authors.forename: Takeshi
authors.initials: T
authors.lastname: Tanimoto
authors.forename: Akira
authors.initials: A
authors.lastname: Yabuki
authors.forename: Keijiro
authors.initials: K
authors.lastname: Mizukami
authors.forename: Hye-Sook
authors.initials: HS
authors.lastname: Chang
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamato
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D001459:Bangladesh / Q000453:epidemiology; D002371:Cat Diseases / Q000201:enzymology* / Q000235:genetics / Q000378:metabolism; D002415:Cats; D016537:Gangliosidosis, GM1 / Q000235:genetics / Q000662:veterinary*; D015971:Gene Expression Regulation, Enzymologic / Q000502:physiology*; D020022:Genetic Predisposition to Disease; D009154:Mutation; D001616:beta-Galactosidase / Q000235:genetics / Q000378:metabolism*
chemical_list: D001616:beta-Galactosidase