Abstract
BackgroundIdiopathic epilepsy (IE) is a naturally occurring and significant seizure disorder affecting all dog breeds. Because dog breeds are genetically isolated populations, it is possible that IE is attributable to common founders and is genetically homogenous within breeds. In humans, a number of mutations, the majority of which are genes encoding ion channels, neurotransmitters, or their regulatory subunits, have been discovered to cause rare, specific types of IE. It was hypothesized that there are simple genetic bases for IE in some purebred dog breeds, specifically in Vizslas, English Springer Spaniels (ESS), Greater Swiss Mountain Dogs (GSMD), and Beagles, and that the gene(s) responsible may, in some cases, be the same as those already discovered in humans.ResultsCandidate genes known to be involved in human epilepsy, along with selected additional genes in the same gene families that are involved in murine epilepsy or are expressed in neural tissue, were examined in populations of affected and unaffected dogs. Microsatellite markers in close proximity to each candidate gene were genotyped and subjected to two-point linkage in Vizslas, and association analysis in ESS, GSMD and Beagles.ConclusionsMost of these candidate genes were not significantly associated with IE in these four dog breeds, while a few genes remained inconclusive. Other genes not included in this study may still be causing monogenic IE in these breeds or, like many cases of human IE, the disease in dogs may be likewise polygenic.
Highlights
Idiopathic epilepsy (IE) is a naturally occurring and significant seizure disorder affecting all dog breeds
The majority of the loci (n = 36) had highly insignificant p-values, decreasing the likelihood that these genes are associated with IE in this breed; eighteen of the inherited human epilepsy genes were in this group, as were both of the mouse epilepsy genes
Bolded genes marked with a * indicate those associated with human IE, and bolded genes marked with a # indicate those associated with mouse models of epilepsy
Summary
Idiopathic epilepsy (IE) is a naturally occurring and significant seizure disorder affecting all dog breeds. A number of mutations, the majority of which are genes encoding ion channels, neurotransmitters, or their regulatory subunits, have been discovered to cause rare, specific types of IE. It is generally accepted that IE in humans is due to an underlying genetic origin [2], causative mutations have been discovered in only a small subset of IEs, mostly in isolated populations. These identified epilepsy mutations are, for the most part, Mendelian or monogenic IEs [3,4,5,6], and are often termed “channelopathies” due to their occurrence in ion channel genes. Canine seizures exhibit a remarkable resemblance to human seizures [8] and the usefulness of naturally occurring canine epilepsy as a translational model to
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