
Testing of cats: GM2 in domestic shorthaired cat
Related tests
- Combination House Cat and European Cat 1 CEP + Gangliosidosis (AB variant) + GM2 + HCM + Haemophilia B + Blood Group DNA test + PK deficiency
GM2 gangliosidosis
Gangliosidosis, also known as Sandhoff's disease, is a lysosomal storage disease in which gangliosides accumulate in various tissues due to a deficiency of the enzyme hexosaminidase. The disease is characterized by progressive neuromuscular dysfunction and impaired growth from an early age.
The causative mutation is inversion c.1467_1491inv in the HEXB gene, encoding hexosaminidase B.
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:
Martin, DR., Krum, BK., Varadarajan, GS., Hathcock, TL., Smith, BF., Baker, HJ. : An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Exp Neurol 187:30-7, 2004. Pubmed reference: 15081585