Peer-reviewed veterinary case report
Neurodegenerative storage disease in European Burmese cats
By Bradbury, Allison M et al.·Published in Molecular genetics and metabolism·2009·College of Veterinary Medicine, United States·View original on PubMed →
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Original publication title: Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency.
- Species:
- cat
Plain-English summary
A group of European Burmese cats showed signs of neurological problems, which were linked to a serious genetic condition called GM2 gangliosidosis. This disease is caused by a deficiency in an enzyme that helps break down certain fats in the brain, leading to severe health issues. Tests confirmed that these cats had a significant buildup of GM2 ganglioside in their brain tissue and lacked the necessary enzyme activity. Unfortunately, this condition is progressive and fatal, meaning affected cats typically do not recover.
People also search for: Burmese cat neurological problems · GM2 gangliosidosis in cats · cat enzyme deficiency symptoms
Abstract
GM2 gangliosidosis is a fatal, progressive neuronopathic lysosomal storage disease resulting from a deficiency of beta-N-acetylhexosaminidase (EC 3.2.1.52) activity. GM2 gangliosidosis occurs with varying degrees of severity in humans and in a variety of animals, including cats. In the current research, European Burmese cats presented with clinical neurological signs and histopathological features typical of a lysosomal storage disease. Thin layer chromatography revealed substantial storage of GM2 ganglioside in brain tissue of affected cats, and assays with a synthetic fluorogenic substrate confirmed the absence of hexosaminidase activity. When the hexosaminidase beta-subunit cDNA was sequenced from affected cats, a 91 base pair deletion constituting the entirety of exon 12 was documented. Subsequent sequencing of introns 11 and 12 revealed a 15 base pair deletion at the 3' end of intron 11 that included the preferred splice acceptor site, generating two minor transcripts from cryptic splice acceptor sites in affected Burmese cats. In the cerebral cortex of affected cats, hexosaminidase beta-subunit mRNA levels were approximately 1.5 times higher than normal (P<0.001), while beta-subunit protein levels were substantially reduced on Western blots.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/19231264/