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Degenerative Myelopathy Early-Onset Risk Modifier (Pembroke Welsh Corgi Type)

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Test Overview:

Degenerative myelopathy risk modifier (Pembroke Welsh corgi type) is a genetic mutation that affects the onset of the Degenerative Myelopathy disease in the Pembroke Welsh Corgi dog breed, in dogs who are already at risk for this disease. In Pembroke Welsh Corgi's who already have two copies of the Degenerative Myelopathy mutation in the SOD1, a mutation in the SP110 gene may increase their chance of developing the disease by decreasing the age of their disease onset. In the absence of the two copies of SOD1 mutation, the SP110 variant does not affect a dog’s health. Degenerative myelopathy is an inherited neurologic disorder of dogs. The SOD1 gene mutation associated with degenerative myelopathy is found in multiple dog breeds, including the Pembroke Welsh corgi. Pembroke Welsh corgis are known to develop degenerative myelopathy associated with a mutation of the SOD1 gene. The variable presentation between breeds suggests that there are other genetic/ environmental factors responsible for modifying disease expression. The disease affects the White Matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs will usually present with gradual muscle Atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves in adulthood. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose faecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected small breed dogs, such as the Pembroke Welsh corgi, often progress more slowly than affected large breed dogs and owners may postpone euthanasia until the dog is paraplegic. Efforts to prevent puppies from being born with the degenerative myelopathy disorder should focus on preventing puppies from being born with two copies of the SOD1 gene mutation rather than selection against the SP110 mutation.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

SP110

Variant Detected:

chr25:42439453 (canFam3): C/T

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Recommended Screening:

Genetic testing of the SP110 gene in Pembroke Welsh corgis will reliably determine if a dog is a genetic carrier of degenerative myelopathy modifier (Pembroke Welsh corgi type).

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/27185954/ Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, Taylor JF, Perloski M, Biagi T, Baranowska I, Long S, March PA, Olby NJ, Shelton GD, Khan S, O'Brien DP, Lindblad-Toh K, Coates JR. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009 Feb 24; 106(8):2794-9. [PubMed: 19188595] Coates JR, March PA, Oglesbee M, Ruaux CG, Olby NJ, Berghaus RD, O'Brien DP, Keating JH, Johnson GS, Williams DA. Clinical characterization of a familial degenerative myelopathy in Pembroke Welsh Corgi dogs. J Vet Intern Med. 2007 Nov-Dec; 21(6):1323-31. [PubMed: 18196743] Coates JR, Wininger FA. Canine degenerative myelopathy. Vet Clin North Am Small Anim Pract. 2010 Sep; 40(5):929-50. [PubMed: 20732599] Ivansson EL, Megquier K, Kozyrev SV, Murén E, Körberg IB, Swofford R, Koltookian M, Tonomura N, Zeng R, Kolicheski AL, Hansen L, Katz ML, Johnson GC, Johnson GS, Coates JR, Lindblad-Toh K. Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy. Proc Natl Acad Sci U S A. 2016 May 31;113(22). [PubMed: 27185954] Shelton GD, Johnson GC, O’Brien DP, Katz ML, Pesayco JP, Chang BJ, Mizisin AP, Coates JR. Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers. J Neurol Sci. 2012 Jul 15;318(1-2):55-64. [PubMed: 22542607] Zeng R, Coates JR, Johnson GC, Hansen L, Awano T, Kolicheski A, Ivansson E, Perloski M, Lindblad-Toh K, O'Brien DP, Guo J, Katz ML, Johnson GS. Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy. J Vet Intern Med. 2014 Feb 13. doi: 10.1111/jvim.12317. [PubMed: 24524809]

Associated Breed(s):

Pembroke Welsh Corgi,

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