Peer-reviewed veterinary case report
Degenerative myelopathy and SOD1 mutation in Japanese Collies
By Kohyama, Moeko et al.Ā·Published in The Journal of veterinary medical scienceĀ·2017Ā·Joint Faculty of Veterinary Medicine, JapanĀ·View original on PubMed ā
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Original publication title: Degenerative myelopathy in the Collie breed: a retrospective immunohistochemical analysis of superoxide dismutase 1 in an affected Rough Collie, and a molecular epidemiological survey of the SOD1: c.118G>A mutation in Japan.
- Species:
- dog
Plain-English summary
A Rough Collie in Japan was diagnosed with degenerative myelopathy (DM), a progressive nerve disease that affects older dogs and leads to weakness and loss of coordination. Researchers found a specific genetic mutation (c.118G>A) linked to DM in this breed, indicating that Collies may be more likely to develop this condition. The study showed that nearly 28% of Collies tested carried this mutation, suggesting a genetic predisposition. To help prevent DM in Collies, veterinarians may recommend genetic testing for this mutation.
People also search for: Rough Collie degenerative myelopathy symptoms Ā· dog genetic testing for degenerative myelopathy Ā· what is degenerative myelopathy in dogs
Abstract
Canine degenerative myelopathy (DM) is an adult-onset, progressive neurodegenerative disease that occurs in multiple dog breeds. A DM-associated mutation of the canine superoxide dismutase 1 (SOD1) gene, designated as c.118G>A (p.E40K), has been implicated as one of pathogenetic determinants of the disease in many breeds, but it remains to be determined whether the c.118G>A mutation is responsible for development or progression of DM in Collies. Previously, a Rough Collie was diagnosed clinically and histopathologically as having DM in Japan, suggesting the possibility that the Collie breed may be predisposed to DM due to the high frequency of c.118G>A in Japan. In this study, accumulation and aggregate formation of SOD1 protein were retrospectively demonstrated in the spinal cord of the DM-affected dog by immunohistochemical analysis. Furthermore, a molecular epidemiological survey revealed a high carrier rate (27.6%) and mutant allele frequency (0.138) of c.118G>A in a population of Collies in Japan, suggesting that the Collie breed may be predisposed to DM associated with c.118G>A, and the prevention of DM in Collies in Japan should be addressed through epidemiological and genetic testing strategies.
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Search related cases āOriginal publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/27941298/