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Neuroaxonal Dystrophy (NAD) – Rottweiler Type
| Acronym: | NAD |
| Gene: | VPS11 |
| Mutation: | c.2504A>G |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Neuroaxonal Dystrophy (NAD) is part of a group of genetic degenerative neurological diseases characterized by dystrophic changes in the neurons. NADs in animals have been reported in several animals including dogs, with the highest prevalence in Rottweiler dogs. The disease shows young adult age of onset with the mild progression of clinical signs that typically include postural deficits, ataxia, hypermetria, and tremor. The cause of NAD in Rottweilers is a missense mutation within the Vacuolar Protein Sorting 11 (VPS11) gene. VPS protein family is essential for control of the membrane fusion machinery and trafficking of material through the endosome-lysosome organelles and their dysfunction leads to dystrophic axons and degeneration of neurons.
This type of degenerative neurological disease that affects Rottweiler dogs is inherited as an autosomal recessive trait meaning two copies of the mutated gene are required for the disease to develop. That means Rottweiler dogs with only one copy of the mutated VPS11 gene will not develop the disease but can act as carriers of the mutation. Early genetic testing can help identify affected dogs that carry the 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:
Lucot, K. L., Dickinson, P. J., Finno, C. J., Mansour, T. A., Letko, A., Minor, K. M., Mickelson, J. R., Drögemüller, C., Brown, C. T., Bannasch, D. L. (2018). A Missense Mutation in the Vacuolar Protein Sorting 11 (VPS11) Gene Is Associated with Neuroaxonal Dystrophy in Rottweiler Dogs. G3 (Bethesda, Md.), 8(8), 2773–2780. https://doi.org/10.1534/g3.118.200376
Sisó, S., Ferrer, I., Pumarola, M. (2001). Juvenile neuroaxonal dystrophy in a Rottweiler: accumulation of synaptic proteins in dystrophic axons. Acta neuropathologica, 102(5), 501–504. https://doi.org/10.1007/s004010100386