Resistance to Phenobarbital Therapy – Border Collie
Code: H754
Short description
Multi Drug Resistance (MDR) is a disorder that affects the permeability-glycoprotein (P-gp).
General information
Multi Drug Resistance (MDR) is a disorder that affects the permeability-glycoprotein (P-gp). This is a transmembrane protein encoded by the ABCB1 gene, also called multidrug resistance 1 gene (MDR1). It functions as a pump in the blood-brain barrier (BBB) to prevent potentially toxic compounds/drugs to reach the brain. Without the P-gp protein, compounds/drugs either can reach the brain in excess (intoxication) or can’t reach the brain (drug resistance).
The variant of MDR analysed in this test decreases the effectiveness of phenobarbital (PB) treatment for epilepsy. The variant occurs in the Border Collie, and is caused by an incompletely dominant mutation to the gene ABCB1.
Specifications
| Breeds | |
|---|---|
| Gene | ABCB1 |
| Chromosome | 14 |
| Mutation | c.-6-180T>G |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Incomplete Dominant |
| Also known as | MDR1 |
Clinical features
Affected dogs also affected by Idiopathic Epilepsy (IE) are significantly less likely to experience a reduction in seizure frequency when treated with phenobarbital (PB).
References
Pubmed ID: 21488961
Year published: 2011
Omia ID: 1402
Omia variant ID:
Turnaround information
- 15 working days