GM1 Gangliosidose (Siamese type)

 

Gene: GLB1

Transmission: Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease, but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, GLB1 gene; c.1448 G>C, exon14

Medical system: Neurological

Breeds: Asian, Burmese, Domestic Shorthair, Highland Lynx, Korat, Oriental Shorthair, Peterbald, Pixie-bob, Siamese, Thai

Age of onset of symptoms: 2 to 3 months of age

GM1 gangliosidosis is a neurodegenerative disease caused by a lack of beta galactosidase, an enzyme found within lysosomes in the cells.  Neurological symptoms such as tremors affecting the head and the hind limbs appear around 2 to 3 months of age.  The disease is similar to GM2 gangliosidosis but has a slower clinical progression.  The treatment is symptomatic with an aim to relieve the animal’s suffering.

 

References:

OMIA link: [0402-9685]

Anderson H, Davison S, Lytle KM, et al. (2022) Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.  PLoS Genet. 16;18(6):e1009804.  [pubmed/35709088]

Martin DR, Rigat BA, Foureman P, et al. (2008) Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab. 94(2):212–221.  [pubmed/18353697]