Peer-reviewed veterinary case report
Gene mutations for 3 inherited diseases in Polish Labradors
By Rogalska-Niznik, N et al.·Published in Polish journal of veterinary sciences·2025·Department of Genetics and Animal Breeding·View original on PubMed →
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Original publication title: Prevalence of the SOD1, PRCD and SLC2A9 gene mutations responsible for degenerative myelopathy, progressive rod-cone degeneration, and hyperuricosuria in Polish population of Labrador Retriever dogs.
- Species:
- dog
Plain-English summary
A group of 200 Labrador Retrievers in Poland was tested for genetic mutations linked to degenerative myelopathy (DM), progressive rod-cone degeneration (PRCD), and hyperuricosuria (HUU). The study found that 2% of the dogs had the mutation for PRCD, while 1% were carriers for HUU, but none had the mutation for DM. This suggests that while the risk for DM is lower in this population, there is a slightly higher chance of PRCD and HUU. Understanding these genetic risks can help breeders make informed decisions to reduce the incidence of these hereditary diseases.
People also search for: Labrador Retriever genetic testing · degenerative myelopathy in dogs · progressive rod-cone degeneration symptoms
Abstract
Knowledge of the molecular background of hereditary diseases facilitates the unambiguous diagnosis of affected animals and the identification of healthy carriers, which is particularly important from a breeding perspective. To date 330 canine diseases with at least one known causative variant have been described. Degenerative myelopathy (DM), caused by a mutation in the SOD1 gene; progressive rod-cone degeneration (PRCD), caused by a mutation in the PRCD gene; and hyperuricosuria (HUU), caused by a mutation in the SLC2A9 gene, are among the most common monogenic autosomal recessive diseases identified in numerous dog breeds; however, their incidence varies significantly among breeds. The Labrador Retriever is a popular breed in Poland, and it was assumed that the known causative DNA variants for these three diseases are also present in its gene pool. The aim of this study was to analyze the distribution of these causal mutations in the Polish population of this breed. In total, 200 dogs were studied using Sanger sequencing. Among them, 32 carriers (16%) and 4 affected individuals (2%) were identified for PRCD, and 2 carriers (1%) were identified for HUU, while all studied dogs were free of the SOD1 mutation. The results obtained were compared with data for over 16,800 Labrador Retrievers published by Donner et al. (2023). We concluded that the frequency of the causal mutation responsible for DM in the Polish population is lower, while the frequencies of the causative variants for PRCD (0.01) and HUU (0.005) are slightly higher.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/40996129/