The role of the calcium release channel of skeletal muscle sarcoplasmic reticulum in malignant hyperthermia

Ann N Y Acad Sci. 1993 Dec 20:707:294-304. doi: 10.1111/j.1749-6632.1993.tb38060.x.

Abstract

In this short review, we have described studies that have identified Arg415 in the Ca2+ release channel as a residue that influences channel sensitivity to Ca2+ induced Ca2+ release, rate of Ca2+ release, and channel closing. We have also described studies that confirm Dr. Numa's predictions that residues 4246-4267, 4382-4417, and 4478-4512 contain Ca2+ binding sites. The site between residues 4483 and 4494 (the PE repeat sequence) may be a key binding site for Ca2+ activation of the channel. Other residues in the sequence 4478-4512 may also contribute to activation of the channel. Thus our studies have contributed to basic knowledge of regulation of Ca2+ release function. They have also provided practical benefits in defining a disease gene, in development of a diagnostic test for porcine MH that is of economic benefit, and in laying the foundation for human MH diagnostic tests that may prevent anesthesia-induced morbidity and mortality.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Arginine
  • Binding Sites
  • Calcium / metabolism
  • Calcium Channels / chemistry
  • Calcium Channels / genetics*
  • Calcium Channels / physiology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19
  • Humans
  • Malignant Hyperthermia / diagnosis
  • Malignant Hyperthermia / genetics*
  • Malignant Hyperthermia / veterinary
  • Molecular Sequence Data
  • Muscle Proteins / chemistry
  • Muscle Proteins / genetics*
  • Muscle Proteins / physiology
  • Muscle, Skeletal / physiopathology*
  • Point Mutation
  • Ryanodine Receptor Calcium Release Channel
  • Sarcoplasmic Reticulum / physiology*
  • Swine
  • Swine Diseases / genetics

Substances

  • Calcium Channels
  • Muscle Proteins
  • Ryanodine Receptor Calcium Release Channel
  • Arginine
  • Calcium