Candidate genes for idiopathic epilepsy in four dog breeds

BMC Genetics

Research Article

Edward E Patterson¹  Kari J Ekenstedt¹  James R Mickelson²  Katie M Minor² 

[1] Department of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, 1352 Boyd Avenue, 55108, Saint Paul, Minnesota, USA;Department of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, 295 AS/VM, 1988 Fitch Avenue, 55108, St. Paul, Minnesota, USA;

关键词: Idiopathic Epilepsy;    Human Epilepsy;    Lafora Disease;    Mouse Model Gene;    Marker Heterozygosity;   

DOI  :  10.1186/1471-2156-12-38

 received in 2010-12-17, accepted in 2011-04-25,  发布年份 2011

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© Ekenstedt et al; licensee BioMed Central Ltd. 2011