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Degenerative Myelopathy (DM) - Pembroke Welsh Corgi Type
| Acronym: | DM |
| Gene: | SOD1 |
| Mutation: | c.118G>A |
| Inheritance: | Autosomal Recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
| Method: |
Genetics and characteristics
Degenerative myelopathy (DM) is a genetic neurodegenerative disorder affecting the spinal cord, resulting in slowly progressive motor neuron loss and paralysis. DM was initially described in German Shepherds but has since been diagnosed in several other dog breeds, including Pembroke Welsh Corgi. The disease occurs in affected dogs in late adulthood, at approximately 8 years of age, and is characterized by a slowly progressive general proprioceptive ataxia and upper motor neuron paralysis of the pelvic limbs. The specific type of DM found in Pembroke Welsh Corgi dogs is associated with a point mutation in the canine SOD1 gene that encodes a superoxide dismutase 1. Superoxide dismutase 1 is an enzyme that binds to molecules of copper and zinc to break down toxic, charged oxygen molecules called superoxide radicals that can cause severe damage to cells.
Pembroke Welsh Corgi Dog type of this neurodegenerative disorder is inherited as an autosomal recessive trait, requiring two copies of the mutated SOD1 gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Since the onset of the disease is in late adulthood, the only way to prevent passing the mutation to the offspring is early detection by genetic testing that can help breeders in selecting future 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:
Awano, T., Johnson, G. S., Wade, C. M., Katz, M. L., Johnson, G. C., Taylor, J. F., Perloski, M., Biagi, T., Baranowska, I., Long, S., March, P. A., Olby, N. J., Shelton, G. D., Khan, S., O Brien, D. P., Lindblad-Toh, K., Coates, J. R. (2009). Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proceedings of the National Academy of Sciences of the United States of America, 106(8), 2794–2799. https://doi.org/10.1073/pnas.0812297106
Ogawa, M., Uchida, K., Yamato, O., Inaba, M., Uddin, M. M., Nakayama, H. (2014). Neuronal loss and decreased GLT-1 expression observed in the spinal cord of Pembroke Welsh Corgi dogs with canine degenerative myelopathy. Veterinary pathology, 51(3), 591–602. https://doi.org/10.1177/0300985813495899
Shelton, G. D., Johnson, G. C., O Brien, D. P., Katz, M. L., Pesayco, J. P., Chang, B. J., Mizisin, A. P., Coates, J. R. (2012). Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh corgis and boxers. Journal of the neurological sciences, 318(1-2), 55–64. https://doi.org/10.1016/j.jns.2012.04.003