Peer-reviewed veterinary case report
Phenobarbital-resistant epilepsy gene common in Border Collies
By Mizukami, Keijiro et al.·Published in Disease markers·2013·Department of Veterinary Medicine, Japan·View original on PubMed →
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Original publication title: High frequency of a single nucleotide substitution (c.-6-180T>G) of the canine MDR1/ABCB1 gene associated with phenobarbital-resistant idiopathic epilepsy in Border Collie dogs.
- Species:
- dog
Plain-English summary
A group of Border Collies with idiopathic epilepsy (seizures with no known cause) was found to have a common genetic mutation that makes them resistant to phenobarbital, a common medication used to control seizures. Researchers discovered a specific change in the MDR1/ABCB1 gene that affects how these dogs respond to treatment. In a study of 472 Border Collies, nearly 25% carried this mutation, which may explain why some of these dogs do not respond well to phenobarbital. This information can help veterinarians choose more effective treatments for affected dogs.
People also search for: Border Collie epilepsy treatment · phenobarbital resistance in dogs · dog seizure medication options
Abstract
A single nucleotide substitution (c.-6-180T>G) associated with resistance to phenobarbital therapy has been found in the canine MDR1/ABCB1 gene in Border Collies with idiopathic epilepsy. In the present study, a PCR-restriction fragment length polymorphism assay was developed for genotyping this mutation, and a genotyping survey was carried out in a population of 472 Border Collies in Japan to determine the current allele frequency. The survey demonstrated the frequencies of the T/T wild type, T/G heterozygote, and G/G mutant homozygote to be 60.0%, 30.3%, and 9.8%, respectively, indicating that the frequency of the mutant G allele is extremely high (24.9%) in Border Collies. The results suggest that this high mutation frequency of the mutation is likely to cause a high prevalence of phenobarbital-resistant epilepsy in Border Collies.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/24302812/