title: Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.
abstract: Malignant hyperthermia (MH) causes neurological, liver, and kidney damage and death in humans and major economic losses in the swine industry. A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of lean, heavily muscled swine. Haplotyping suggests that the mutation in all five breeds has a common origin. Assuming that this is the causal mutation for MH, the development of a noninvasive diagnostic test will provide the basis for elimination of the MH gene or its controlled inclusion in swine breeding programs.
authors.affiliation: Banting and Best Department of Medical Research, University of Toronto, Ontario, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Fujii
authors.forename: K
authors.initials: K
authors.lastname: Otsu
authors.forename: F
authors.initials: F
authors.lastname: Zorzato
authors.forename: S
authors.initials: S
authors.lastname: de Leon
authors.forename: V K
authors.initials: VK
authors.lastname: Khanna
authors.forename: J E
authors.initials: JE
authors.lastname: Weiler
authors.forename: P J
authors.initials: PJ
authors.lastname: O'Brien
authors.forename: D H
authors.initials: DH
authors.lastname: MacLennan
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D006239:Haplotypes; D008305:Malignant Hyperthermia / Q000235:genetics / Q000662:veterinary*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011950:Receptors, Cholinergic / Q000235:genetics*; D015183:Restriction Mapping; D012433:Ryanodine / Q000378:metabolism; D019837:Ryanodine Receptor Calcium Release Channel; D013045:Species Specificity; D013552:Swine; D013553:Swine Diseases / Q000235:genetics*
chemical_list: D003062:Codon; D011950:Receptors, Cholinergic; D019837:Ryanodine Receptor Calcium Release Channel; D012433:Ryanodine