OMIA 000403-9685 : Gangliosidosis, GM2, generic in Felis catus

In other species: dog , pig

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM2 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme hexosaminidase, whose task is to break down the GM2 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2016 Kohyama, M., Yabuki, A., Ochiai, K., Nakamoto, Y., Uchida, K., Hasegawa, D., Takahashi, K., Kawaguchi, H., Tsuboi, M., Yamato, O. :
In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses. BMC Vet Res 12:67, 2016. Pubmed reference: 27036194. DOI: 10.1186/s12917-016-0691-y.
2013 Hasegawa, D., Tamura, S., Nakamoto, Y., Matsuki, N., Takahashi, K., Fujita, M., Uchida, K., Yamato, O. :
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases. PLoS One 8:e83455, 2013. Pubmed reference: 24386203. DOI: 10.1371/journal.pone.0083455.
1991 Claro, E., Wallace, M.A., Fain, J.N., Nair, B.G., Patel, T.B., Shanker, G., Baker, H.J. :
Altered Phosphoinositide-Specific Phospholipase-C and Adenylyl Cyclase in Brain Cortical Membranes of Cats with GM1 and GM2 Gangliosidosis Molecular Brain Research 11:265-271, 1991. Pubmed reference: 1661824.
1990 Walkley, S.U., Baker, H.J., Rattazzi, M.C. :
Initiation and growth of ectopic neurites and meganeurites during postnatal cortical development in ganglioside storage disease Brain Research 1:167-178, 1990.
1988 Gilbert, D.A., O'Brien, J.S., O'Brien, S.J. :
Chromosomal mapping of lysosomal enzyme structural genes in the domestic cat Genomics 2:329-336, 1988. Pubmed reference: 3220474.
1982 Rattazzi, MC., Appel, AM., Baker, HJ. :
Enzyme replacement in feline GM2 gangliosidosis: catabolic effects of human beta-hexosaminidase A. Prog Clin Biol Res 94:213-20, 1982. Pubmed reference: 6214798.
1974 Baker, H. :
Siamese cats give new hope for Tay-Sachs disease ILAR News 17:19-20, 1974.

Edit History


  • Created by Frank Nicholas on 20 Sep 2008