OMIA 000402-9685 : Gangliosidosis, GM1 in Felis catus

In other species: emu , dog , cattle , sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 230500 , 230650

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2008

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM1 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme beta-galactosidase, whose task is to break down the GM1 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

Molecular basis: Martin et al. (2008) reported the causal mutation as "a G to C substitution at position 1448 of the open reading frame [of GLB1], resulting in an amino acid substitution at arginine 483, known to cause G(M1) gangliosidosis in humans". Uddin et al. (2013) identified the same mutation in two affected cats from Bangladesh, indicating that this mutation is widespread.

Ueno et al. (2016) reported an affected Japanese domestic cat that did not have the only known likely causal variant, namely c.1448G>C (above), "suggesting that the cat was affected with a new variant of the feline disease".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GLB1 galactosidase, beta 1 Felis catus C2 NC_018731.3 (158998898..158910838) GLB1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Gangliosidosis, GM1 GLB1 missense Felis_catus_6.2 C2 g.155458074G>C c.1448G>C p.R483P 2008 18353697 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
Ueno, H., Yamato, O., Sugiura, T., Kohyama, M., Yabuki, A., Miyoshi, K., Matsuda, K., Uchide, T. :
GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan. J Vet Med Sci 78:91-5, 2016. Pubmed reference: 26234889. DOI: 10.1292/jvms.15-0281.
2014 McCurdy, V.J., Johnson, A.K., Gray-Edwards, H.L., Randle, A.N., Brunson, B.L., Morrison, N.E., Salibi, N., Johnson, J.A., Hwang, M., Beyers, R.J., Leroy, S.G., Maitland, S., Denney, T.S., Cox, N.R., Baker, H.J., Sena-Esteves, M., Martin, D.R. :
Sustained normalization of neurological disease after intracranial gene therapy in a feline model. Sci Transl Med 6:231ra48, 2014. Pubmed reference: 24718858. DOI: 10.1126/scitranslmed.3007733.
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.
Uddin, M.M., Hossain, M.A., Rahman, M.M., Chowdhury, M.A., Tanimoto, T., Yabuki, A., Mizukami, K., Chang, H.S., Yamato, O. :
Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. J Vet Med Sci 75:395-7, 2013. Pubmed reference: 23123943.
2012 Rigat, B.A., Tropak, M.B., Buttner, J., Crushell, E., Benedict, D., Callahan, J.W., Martin, D.R., Mahuran, D.J. :
Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy. Mol Genet Metab 107:203-12, 2012. Pubmed reference: 22784478. DOI: 10.1016/j.ymgme.2012.06.007.
Sewell, A.C., Haskins, M.E., Giger, U. :
Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol 41:548-57, 2012. Pubmed reference: 23121383. DOI: 10.1111/j.1939-165x.2012.00485.x.
Uddin, M.M., Tanimoto, T., Yabuki, A., Kotani, T., Kuwamura, M., Chang, H.S., Yamato, O. :
Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s. J Feline Med Surg 14:900-2, 2012. Pubmed reference: 22772479. DOI: 10.1177/1098612X12454120.
2008 Martin, DR., Rigat, BA., Foureman, P., Varadarajan, GS., Hwang, M., Krum, BK., Smith, BF., Callahan, JW., Mahuran, DJ., Baker, HJ. :
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab 94:212-21, 2008. Pubmed reference: 18353697. DOI: 10.1016/j.ymgme.2008.02.004.
Samoylova, TI., Martin, DR., Morrison, NE., Hwang, M., Cochran, AM., Samoylov, AM., Baker, HJ., Cox, NR. :
Generation and characterization of recombinant feline beta-galactosidase for preclinical enzyme replacement therapy studies in GM1 gangliosidosis. Metabolic Brain Disease 23:161-73, 2008. Pubmed reference: 18421424. DOI: 10.1007/s11011-008-9086-5.
2003 Martin DR, Haack K, Krum BK, Hathcock TL, Cox NR, Kafri T, Niemeyer GP, Baker HJ :
Mesenchymal stem cell and lentiviral gene therapy for feline G(M1) gangliosidosis (abstract only) Molecular Therapy 7:651, 2003.
1999 Cox, N.R., Morrison, N.E., Sartin, J.L., Buonomo, F.C., Steele, B., Baker, H.J. :
Alterations in the growth hormone/insulin-like growth factor I pathways in feline GM1 gangliosidosis Endocrinology 140:5698-5704, 1999. Pubmed reference: 10579334.
1998 Cox, N.R., Ewald, S.J., Morrison, N.E., Gentry, A.S., Schuler, M., Baker, H.J. :
Thymic alterations in feline GM1 gangliosidosis Veterinary Immunology & Immunopathology 63:335-353, 1998.
Demaria, R., Divari, S., Bo, S., Sonnino, S., Lotti, D., Capucchio, M.T., Castagnaro, M. :
Beta-glactosidase deficiency in a Korat cat - a new form of feline G(M1)-gangliodosis Acta Neuropathologica 96:307-314, 1998. Pubmed reference: 9754965.
1997 Steiss, J.E., Baker, H.J., Braund, K.G., Cox, N.R., Wright, J.C. :
Profile of electrodiagnostic abnormalities in cats with GM1 gangliosidosis American Journal of Veterinary Research 58:706-709, 1997. Pubmed reference: 9215443.
1994 Dial, S.M., Mitchell, T.W., Lecouteur, R.A., Wenger, D.A., Roberts, S.M., Gasper, P.W., Thrall, M.A. :
GM(1)-Gangliosidosis (Type-II) in 3 Cats Journal of the American Animal Hospital Association 30:355-359, 1994.
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.
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.
Nowakowski, RW., Thompson, JN., Baker, HJ. :
Diagnosis of feline GM1 gangliosidosis by enzyme assay of cultured conjunctival cells. Invest Ophthalmol Vis Sci 29:487-90, 1988. Pubmed reference: 3125124.
1987 Koenig, ML., Jope, RS., Baker, HJ., Lally, KM. :
Reduced Ca2+ flux in synaptosomes from cats with GM1 gangliosidosis. Brain Res 424:169-76, 1987. Pubmed reference: 3121133.
1986 Jope, RS., Baker, HJ., Connor, DJ. :
Increased acetylcholine synthesis and release in brains of cats with GM1 gangliosidosis. J Neurochem 46:1567-72, 1986. Pubmed reference: 3083048.
1985 Baker, HJ., Jope, RS. :
Increased metabolism of acetylcholine in brain of cats with Gm1 gangliosidosis. Brain Res 343:363-5, 1985. Pubmed reference: 3931858.
1982 Singer, HS., Coyle, JT., Weaver, DL., Kawamura, N., Baker, HJ. :
Neurotransmitter chemistry in feline GM1 gangliosidosis: a model for human ganglioside storage disease. Ann Neurol 12:37-41, 1982. Pubmed reference: 6126152. DOI: 10.1002/ana.410120107.
1978 Purpura, DP., Baker, HJ. :
Meganeurites and other aberrant processes of neurons in feline GM1-gangliosidosis: a Golgi study. Brain Res 143:13-26, 1978. Pubmed reference: 415798.
Purpura, DP., Pappas, GD., Baker, HJ. :
Fine structure of meganeurites and secondary growth processes in feline GM1-gangliosidosis. Brain Res 143:1-12, 1978. Pubmed reference: 415797.
Reynolds, GC., Baker, HJ., Reynolds, RH. :
Enzyme replacement using liposome carriers in feline Gm1 gangliosidosis fibroblasts. Nature 275:754-5, 1978. Pubmed reference: 100709.
1977 Purpura, KP., Baker, HJ. :
Neurite induction in mature cortical neurones in feline GM1-ganglioside storage disease. Nature 266:553-4, 1977. Pubmed reference: 404568.
1974 Baker, HJ., Lindsey, JR. :
Animal model: feline GM1 gangliosidosis. Am J Pathol 74:649-52, 1974. Pubmed reference: 4856037.
1973 Farrell, DF., Baker, HJ., Herndon, RM., Lindsey, JR., McKhann, GM. :
Feline GM 1 gangliosidosis: biochemical and ultrastructural comparisons with the disease in man. J Neuropathol Exp Neurol 32:1-18, 1973. Pubmed reference: 4119597.
1971 Baker, HJ., Lindsey, JR., McKhann, GM., Farrell, DF. :
Neuronal GM1 gangliosidosis in a Siamese cat with beta-galactosidase deficiency. Science 174:838-9, 1971. Pubmed reference: 5120520.

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  • Created by Frank Nicholas on 13 Jul 2009
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 16 Apr 2013
  • Changed by Frank Nicholas on 09 Nov 2016