Gangliosidosis (GM2 Type II) – Poodle Type
Kodas: H490
Short description
Gangliosidosis (GM2 Type II) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes.
General information
Gangliosidosis (GM2 Type II) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes. These mutations lead to a deficiency of an enzyme that is crucial for breaking down ganglioside GM2 in cells, especially in the brain. As a result, gangliosides build up in nerve cells, causing their dysfunction and death. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXB in the poodle. A related mutation of this gene is found in the Shiba Inu.
Specifications
| Breeds | |
|---|---|
| Gene | HEXB |
| Chromosome | 2 |
| Mutation | c.283delG |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | GM2, variant 0; Sandhoff |
Clinical features
Dogs affected with Gangliosidosis can show a variety of symptoms including lack of coordination, depression, behavioral changes, head shaking, mental dullness, seizures, blindness, deafness, developmental delay. Specific to GM2-0: tremors, vision loss, vomiting and balance loss ( 9-12 months of age) - death at 18-23 months of age.
References
Pubmed ID: 22766310
Year published: 2012
Omia ID: 1462
Omia variant ID:
Turnaround information
- 10 working days