Literature DB >> 23123943

Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study.

Mohammad Mejbah Uddin1, Mohammad Alamgir Hossain, Mohammad Mahbubur Rahman, Morshedul Alam Chowdhury, Takeshi Tanimoto, Akira Yabuki, Keijiro Mizukami, Hye-Sook Chang, Osamu Yamato.   

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.

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Year:  2012        PMID: 23123943     DOI: 10.1292/jvms.12-0307

Source DB:  PubMed          Journal:  J Vet Med Sci        ISSN: 0916-7250            Impact factor:   1.267


  6 in total

Review 1.  A review of gene therapy in canine and feline models of lysosomal storage disorders.

Authors:  Allison M Bradbury; Brittney L Gurda; Margret L Casal; Katherine P Ponder; Charles H Vite; Mark E Haskins
Journal:  Hum Gene Ther Clin Dev       Date:  2015-02-11       Impact factor: 5.032

2.  Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

Authors:  Daisuke Hasegawa; Shinji Tamura; Yuya Nakamoto; Naoaki Matsuki; Kimimasa Takahashi; Michio Fujita; Kazuyuki Uchida; Osamu Yamato
Journal:  PLoS One       Date:  2013-12-27       Impact factor: 3.240

3.  Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GM1-Gangliosidosis.

Authors:  Deborah Eikelberg; Annika Lehmbecker; Graham Brogden; Witchaya Tongtako; Kerstin Hahn; Andre Habierski; Julia B Hennermann; Hassan Y Naim; Felix Felmy; Wolfgang Baumgärtner; Ingo Gerhauser
Journal:  J Clin Med       Date:  2020-04-02       Impact factor: 4.241

4.  Intracisternal delivery of AAV9 results in oligodendrocyte and motor neuron transduction in the whole central nervous system of cats.

Authors:  T Bucher; L Dubreil; M-A Colle; M Maquigneau; J Deniaud; M Ledevin; P Moullier; B Joussemet
Journal:  Gene Ther       Date:  2014-02-27       Impact factor: 5.250

5.  In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses.

Authors:  Moeko Kohyama; Akira Yabuki; Kenji Ochiai; Yuya Nakamoto; Kazuyuki Uchida; Daisuke Hasegawa; Kimimasa Takahashi; Hiroaki Kawaguchi; Masaya Tsuboi; Osamu Yamato
Journal:  BMC Vet Res       Date:  2016-03-31       Impact factor: 2.741

6.  GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan.

Authors:  Hiroshi Ueno; Osamu Yamato; Takeshi Sugiura; Moeko Kohyama; Akira Yabuki; Kenjiro Miyoshi; Kazuya Matsuda; Tsuyoshi Uchide
Journal:  J Vet Med Sci       Date:  2015-08-03       Impact factor: 1.267

  6 in total

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