Peer-reviewed veterinary case report
Exercise-induced collapse in Labradors linked to DNM1 gene mutation
By Patterson, Edward E et al.·Published in Nature genetics·2008·Department of Veterinary Clinical Sciences, United States·View original on PubMed →
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Original publication title: A canine DNM1 mutation is highly associated with the syndrome of exercise-induced collapse.
- Species:
- dog
Plain-English summary
A group of Labrador retrievers was found to have a genetic mutation linked to exercise-induced collapse (EIC), which causes muscle weakness and dangerous fainting spells after intense activity. This condition is particularly concerning for active dogs, as it can lead to life-threatening situations during play or exercise. Researchers identified a specific mutation in the DNM1 gene that is common in this breed and likely responsible for the symptoms of EIC. Understanding this genetic link can help owners recognize the signs and manage their dog's exercise safely.
People also search for: Labrador exercise-induced collapse symptoms · EIC in dogs · DNM1 mutation in Labrador retrievers
Abstract
Labrador retrievers are the most common dog breed in the world, with over 200,000 new kennel club registrations per year. The syndrome of exercise-induced collapse (EIC) in this breed is manifested by muscle weakness, incoordination and life-threatening collapse after intense exercise. Using a genome-wide microsatellite marker scan for linkage in pedigrees, we mapped the EIC locus to canine chromosome 9. We then used SNP association and haplotype analysis to fine map the locus, and identified a mutation in the dynamin 1 gene (DNM1) that causes an R256L substitution in a highly conserved region of the protein. This first documented mammalian DNM1 mutation is present at a high frequency in the breed and is a compelling candidate causal mutation for EIC, as the dynamin 1 protein has an essential role in neurotransmission and synaptic vesicle endocytosis.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/18806795/