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GM1 Gangliosidosis (Alaskan Husky Type)

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Test Overview:

GM1 Gangliosidosis (Alaskan Husky Type) affects dogs and is an inherited lysosomal storage disorder. Dogs affected with this disorder will generally present with symptoms of neurologic disease around 1 to 3 months of age. Dogs with the GM1 Gangliosidosis disorder have insufficient activity of the beta-galactosidase enzyme, which is responsible for the breaking down of specific carbohydrates in the cells. Due to this, there becomes an accumulation of break down products like GM1 in cells, especially the cells of the nervous system and brain. Symptoms of this disorder will include Nystagmus, difficulties walking, head tremors, weight loss and loss of balance. Affected dogs will generally have abnormal bone growth and proportional dwarfism. Once an affected dog begins to show signs of the disorder, the disease progression becomes rapid and dogs will usually die by 1 year of age.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

GLB1

Variant Detected:

chr23:3796356-3796374 (canFam3): 19 bp duplication (dup TCCCAGACTTGCCCCAGGA)

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the GLB1 gene will reliably determine if a dog is a genetic carrier of GM1 gangliosidosis (Alaskan husky type).

Research Citation(s):

Kreutzer R, Kreutzer M, Sewell AC, Techangamsuawn S, Leeb T, Baumgartner W. Impact of beta-galactosidase mutations on the expression of the canine lysosomal multienzyme complex. Biochim Biophys Acta. 2009 Oct;1792(10):982-7. [PubMed: 19607915] Kreutzer R, Leeb T, Müller G, Moritz A, Baumgärtner W. A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics. 2005 Aug; 170(4):1857-61. [PubMed: 15944348] Muller G, Alldinger S, Moritz A, Zurbriggen A, Kirchhof N, Sewell A, Baumgartner W. GM-1-gangliosidosis in Alaskan Huskies: Clinical and pathological findings. Vet Pathol. 2001 May;38(3):281-90. [PubMed: 11355658]

Associated Breed(s):

Alaskan Husky, Pomsky,

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