Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia

Science. 1991 Jul 26;253(5018):448-51. doi: 10.1126/science.1862346.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Codon / genetics
  • Haplotypes
  • Malignant Hyperthermia / genetics
  • Malignant Hyperthermia / veterinary*
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Receptors, Cholinergic / genetics*
  • Restriction Mapping
  • Ryanodine / metabolism
  • Ryanodine Receptor Calcium Release Channel
  • Species Specificity
  • Swine
  • Swine Diseases / genetics*

Substances

  • Codon
  • Receptors, Cholinergic
  • Ryanodine Receptor Calcium Release Channel
  • Ryanodine

Associated data

  • GENBANK/M63874
  • GENBANK/M63875
  • GENBANK/M76239
  • GENBANK/M76240
  • GENBANK/M76241
  • GENBANK/M76242
  • GENBANK/M76243
  • GENBANK/M76244
  • GENBANK/M91451
  • GENBANK/M91452