Presence of the glycogen synthase 1 (GYS1) mutation causing type 1 polysaccharide storage myopathy in continental European draught horse breeds.
The purpose of this study was to determine which continental European draught horse breeds harbour a mutation in the glycogen synthase 1 gene (GYS1) that is known to be responsible for type 1 polysaccharide storage myopathy in quarter horses and North American draught horses. Of a non-random selection of continental European draught horses belonging to 13 breeds, 62 per cent (250 of 403) tested were found to carry the mutant allele. The horses were located in Belgium, France, Germany, The Netherlands, Spain and Sweden. The mutation was identified in animals from each of the breeds examined. In the breeds in which more than 15 animals were available for testing, the highest percentages of GYS1-positive horses were found in the Belgian trekpaard (92 per cent; 35 of 38 horses tested), Comtois (80 per cent; 70 of 88), Netherlands trekpaard (74 per cent; 17 of 23), Rheinisch-Deutsches kaltblut (68 per cent; 30 of 44) and Breton (64 per cent; 32 of 51).
Department of Clinical Studies, Ontario Veterinary College, University of Guelph, Guelph, Ontario, N1G 2W1, Canada. jbaird@ovc.uoguelph.ca
J D
JD
Baird
S J
SJ
Valberg
S M
SM
Anderson
M E
ME
McCue
J R
JR
Mickelson
D000818:Animals; D005060:Europe; D005260:Female; D015971:Gene Expression Regulation, Enzymologic; D020022:Genetic Predisposition to Disease; D006008:Glycogen Storage Disease / Q000235:genetics / Q000378:metabolism / Q000662:veterinary*; D006006:Glycogen Synthase / Q000235:genetics* / Q000378:metabolism; D006734:Horse Diseases / Q000235:genetics* / Q000378:metabolism; D006736:Horses; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D011134:Polysaccharides / Q000378:metabolism
D011134:Polysaccharides; D006006:Glycogen Synthase