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Breed Distribution of SOD1 Alleles Previously Associated with Canine Degenerative Myelopathy
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2014 (English)In: Journal of Veterinary Internal Medicine, ISSN 0891-6640, Vol. 28, no 2, 515-521 p.Article in journal (Refereed) Published
Abstract [en]

Background Previous reports associated 2 mutant SOD1 alleles (SOD1:c.118A and SOD1:c.52T) with degenerative myelopathy in 6 canine breeds. The distribution of these alleles in other breeds has not been reported. Objective To describe the distribution of SOD1:c.118A and SOD1:c.52T in 222 breeds. Animals DNA from 33,747 dogs was genotyped at SOD1:c.118, SOD1:c.52, or both. Spinal cord sections from 249 of these dogs were examined. Methods Retrospective analysis of 35,359 previously determined genotypes at SOD1:c.118G>A or SOD1:c.52A>T and prospective survey to update the clinical status of a subset of dogs from which samples were obtained with a relatively low ascertainment bias. Results The SOD1:c.118A allele was found in cross-bred dogs and in 124 different canine breeds whereas the SOD1:c.52T allele was only found in Bernese Mountain Dogs. Most of the dogs with histopathologically confirmed degenerative myelopathy were SOD1:c.118A homozygotes, but 8 dogs with histopathologically confirmed degenerative myelopathy were SOD1:c.118A/G heterozygotes and had no other sequence variants in their SOD1 amino acid coding regions. The updated clinical conditions of dogs from which samples were obtained with a relatively low ascertainment bias suggest that SOD1:c.118A homozygotes are at a much higher risk of developing degenerative myelopathy than are SOD1:c.118A/G heterozygotes. Conclusions and Clinical Importance We conclude that the SOD1:c.118A allele is widespread and common among privately owned dogs whereas the SOD1:c.52T allele is rare and appears to be limited to Bernese Mountain Dogs. We also conclude that breeding to avoid the production of SOD1:c.118A homozygotes is a rational strategy.

Place, publisher, year, edition, pages
2014. Vol. 28, no 2, 515-521 p.
Keyword [en]
Amyotrophic lateral sclerosis, Cytoplasmic aggregates, Spinal cord, DNA test
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-223548DOI: 10.1111/jvim.12317ISI: 000332777900037OAI: diva2:713567
Available from: 2014-04-23 Created: 2014-04-22 Last updated: 2014-04-23Bibliographically approved

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Ivansson, EmmaLindblad-Toh, Kerstin
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Department of Medical Biochemistry and Microbiology
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