Peer-reviewed veterinary case report
ABCB1 gene mutation linked to phenobarbital resistance in epileptic
By Alves, L et al.·Published in Journal of veterinary internal medicine·2011·Department of Clinical Veterinary Medicine·View original on PubMed →
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Original publication title: Polymorphisms in the ABCB1 gene in phenobarbital responsive and resistant idiopathic epileptic Border Collies.
- Species:
- dog
Plain-English summary
A group of Border Collies with idiopathic epilepsy was studied to understand why some dogs respond to phenobarbital (a common seizure medication) while others do not. Among 236 dogs, 25 had epilepsy, and 13 of those were resistant to phenobarbital. Researchers found a specific genetic variation in the ABCB1 gene that was more common in the dogs that didn’t respond to the medication. This suggests that genetic differences might affect how well these dogs respond to epilepsy treatments. Identifying these variations could help veterinarians choose better treatment options for affected dogs.
People also search for: Border Collie epilepsy treatment · why is my dog not responding to phenobarbital · genetic testing for dog seizures
Abstract
BACKGROUND: Variation in the ABCB1 gene is believed to play a role in drug resistance in epilepsy. HYPOTHESIS/OBJECTIVES: Variation in the ABCB1 gene encoding the permeability-glycoprotein could have an influence on phenobarbital (PB) resistance, which occurs with high frequency in idiopathic epileptic Border Collies (BCs). ANIMALS: Two hundred and thirty-six client-owned BCs from Switzerland and Germany including 25 with idiopathic epilepsy, of which 13 were resistant to PB treatment. METHODS: Prospective and retrospective case-control study. Data were collected retrospectively regarding disease status, antiepileptic drug (AED) therapy, and drug responsiveness. The frequency of a known mutation in the ABCB1 gene (4 base-pair deletion in the ABCB1 gene [c.296_299del]) was determined in all BCs. Additionally, the ABCB1 coding exons and flanking sequences were completely sequenced to search for additional variation in 41 BCs. Association analyses were performed in 2 case-control studies: idiopathic epileptic and control BCs and PB-responsive and resistant idiopathic epileptic BCs. RESULTS: One of 236 BCs (0.4%) was heterozygous for the mutation in the ABCB1 gene (c.296_299del). A total of 23 variations were identified in the ABCB1 gene: 4 in exons and 19 in introns. The G-allele of the c.-6-180T > G variation in intron 1 was significantly more frequent in epileptic BCs resistant to PB treatment than in epileptic BCs responsive to PB treatment (P(raw) = .0025). CONCLUSIONS AND CLINICAL IMPORTANCE: A variation in intron 1 of the ABCB1 gene is associated with drug responsiveness in BCs. This might indicate that regulatory mutations affecting the expression level of ABCB1 could exist, which may influence the reaction of a dog to AEDs.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/21488961/