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Gangliosidosis (GM2 Type II) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes.
10 Arbeidsdager
Spesifikasjoner
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|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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.
Kliniske egenskaper
Hunder rammet av gangliosidose kan vise en rekke symptomer, inkludert mangel på koordinering, depresjon, atferdsendringer, hoderisting, mental sløvhet, anfall, blindhet, døvhet, utviklingsforsinkelse. Spesielt for GM2-0: tremor, synstap, oppkast og balansetap (9-12 måneder) - død ved 18-23 måneders alder.
Tilleggsinformasjon
Referanser
Pubmed ID: 22766310
Omia ID: 1462