Peer-reviewed veterinary case report
How common is the SOD1 gene mutation linked to degenerative
By Kountourantzis, Antonis et al.·Published in Research in veterinary science·2023·Department of Genetics·View original on PubMed →
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Original publication title: Prevalence of SOD1 allele associated with degenerative myelopathy in canine population in Greece.
- Species:
- dog
Plain-English summary
A study in Greece looked at a genetic mutation linked to degenerative myelopathy (CDM), a serious spinal disorder that affects dogs, particularly Belgian Malinois and German Shepherds. Researchers tested 108 dogs, finding that the mutation was rare in Belgian Malinois but more common in German Shepherds. Among dogs showing symptoms of CDM, all were found to carry the mutation. While the study showed a strong association between the mutation and CDM, it wasn't statistically significant. This information can help owners understand the genetic risks for their dogs, especially if they belong to these breeds.
People also search for: German Shepherd degenerative myelopathy symptoms · Belgian Malinois genetic testing · dog spinal disorder treatment
Abstract
Canine degenerative myelopathy (CDM) is a late-onset fatal disorder associated with a point mutation of the superoxide dismutase 1 (SOD1) gene (c.118G > A). The purpose of this study was to determine the genotype and allele frequencies of this mutation in 108 dogs, mainly in Belgian Malinois and German Shepherd dogs with (CDM-affected group) and without CDM clinical symptoms (control group) in Greece. Genotyping of the c.118G > A mutation was possible by Sanger sequencing and PCR-RFLP. The observed genotype frequencies for the control group were 89.4% for the homozygous (G/G), 9.6% for the heterozygous (A/G), and 0.96% for the homozygous mutant (A/A) allele. The mutant allele was not common in the Belgian Malinois dogs (allele frequency = 0.029), but quite common in the German Shepherd dogs (allele frequency = 0.138). In the CDM affected group, all 4 dogs were homozygous for the mutant allele. These frequencies were close to those expected, indicating no significant departure from Hardy-Weinberg equilibrium. A strong but not statistically significant association between the mutant allele and CDM was observed. A previously identified deletion upstream of the mutation of interest was found at a high frequency (0.361) in the population.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/37480717/