Gangliosidosis GM2 in Korat cats

Gangliosidosis GM2, also known as Sandhoff disease, is a sporadic lysosomal disease in which gangliosides accumulate in various tissues due to a deficiency of the enzyme β- hexosaminidase. The disease is characterized by progressive neuromuscular dysfunction and growth failure from an early age.

In the Korat breed, the disease is caused by the c.39del mutation in the HEXB gene, encoding β-hexosaminidase.

GM2 is an autosomal recessive disorder. The disease affects cats with P/P (positive / positive) genotype only. Cats with P/N (positive /negative) genotype are clinically without any symptoms. They are genetically considered carriers of the disease (heterozygotes). In offspring of two heterozygous animals following genotype distribution can be expected: 25 % N/N (healthy non-carriers), 25 % P/P (affected), and 50 % N/P (healthy carriers). Because of high risk of producing affected offspring, mating of two N/P animals (carriers) can not be recommended.

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References:

Muldoon, L.L., Neuwelt, E.A., Page, M.A., Weiss, D.L. : Characterization of the molecular defect in a feline model for type II G(M2)-gangliosidosis (Sandhoff disease) American Journal of Pathology 144:1109-1118, 1994. Pubmed reference: 8178934.