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Subacute Necrotizing Encephalopathy (SNE) - Yorkshire Terrier Type
| Acronym: | SNE |
| Gene: | SLC19A3 |
| Mutation: | c.205_210delinsN[35] |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Subacute necrotizing encephalomyelopathy (SNE), also known as Leigh syndrome, is an inherited neurometabolic disorder affecting different genes of the mitochondria. This disease in dogs was firstly reported in Alaskan huskies, but the other dog breed that is the most at risk is Yorkshire Terrier. If not treated, SNE progresses over time and may cause serious seizures and eventually lead to death. This potentially fatal brain disorder in Yorkshire Terrier is associated with a short deletion and a larger insertion that cause loss-of-function variant in SLC19A3 encoding for a thiamine transporter 2 (THTR2), a transport protein in control of thiamine taking up in the central nervous system.
This type of dog neurodegenerative disease is inherited as an autosomal recessive trait, requiring both copies of the mutated gene for the disease to develop. That means Yorkshire Terriers with only one mutated gene copy will not develop the disease, but may potentially pass the mutation to their offspring. Early genetic testing can help identify dogs that carry the gene with the specific mutation and prevent their further breeding by proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Drögemüller, M., Letko, A., Matiasek, K., Jagannathan, V., Corlazzoli, D., Rosati, M., Jurina, K., Medl, S., Gödde, T., Rupp, S., Fischer, A., Luján Feliu-Pascual, A., Drögemüller, C. (2020). SLC19A3 Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy. Genes, 11(10), 1215. https://doi.org/10.3390/genes11101215
Vernau, K. M., Runstadler, J. A., Brown, E. A., Cameron, J. M., Huson, H. J., Higgins, R. J., Ackerley, C., Sturges, B. K., Dickinson, P. J., Puschner, B., Giulivi, C., Shelton, G. D., Robinson, B. H., DiMauro, S., Bollen, A. W., Bannasch, D. L. (2013). Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. PloS one, 8(3), e57195. https://doi.org/10.1371/journal.pone.0057195