Peer-reviewed veterinary case report
SP110 gene variants raise degenerative myelopathy risk in Pembroke
By Ivansson, Emma L et al.·Published in Proceedings of the National Academy of Sciences of the United States of America·2016·Department of Medical Biochemistry and Microbiology, United States·View original on PubMed →
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Original publication title: Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.
- Species:
- dog
Plain-English summary
A study found that Pembroke Welsh Corgis with a specific genetic variant in the SP110 protein were more likely to develop canine degenerative myelopathy (DM), a serious nerve disease, compared to those without the variant. About 40% of the dogs with DM had this genetic marker, while only 4% of unaffected dogs did. This suggests that the SP110 protein may influence the risk and timing of DM in dogs that already carry a known mutation linked to the disease. More research is needed to understand how this genetic factor affects other dog breeds.
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Abstract
Canine degenerative myelopathy (DM) is a naturally occurring neurodegenerative disease with similarities to some forms of amyotrophic lateral sclerosis (ALS). Most dogs that develop DM are homozygous for a common superoxide dismutase 1 gene (SOD1) mutation. However, not all dogs homozygous for this mutation develop disease. We performed a genome-wide association analysis in the Pembroke Welsh Corgi (PWC) breed comparing DM-affected and -unaffected dogs homozygous for the SOD1 mutation. The analysis revealed a modifier locus on canine chromosome 25. A haplotype within the SP110 nuclear body protein (SP110) was present in 40% of affected compared with 4% of unaffected dogs (P = 1.5 × 10(-5)), and was associated with increased probability of developing DM (P = 4.8 × 10(-6)) and earlier onset of disease (P = 1.7 × 10(-5)). SP110 is a nuclear body protein involved in the regulation of gene transcription. Our findings suggest that variations in SP110-mediated gene transcription may underlie, at least in part, the variability in risk for developing DM among PWCs that are homozygous for the disease-related SOD1 mutation. Further studies are warranted to clarify the effect of this modifier across dog breeds.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/27185954/