Several interacting genes influence the malignant hyperthermia phenotype

Hum Genet. 2003 Feb;112(2):217-8. doi: 10.1007/s00439-002-0864-6. Epub 2002 Nov 15.

Abstract

Malignant hyperthermia (MH), a potentially lethal disorder of skeletal muscle calcium homeostasis, manifests only on exposure to certain anaesthetic drugs. The mode of inheritance appears to be autosomal dominant with both locus and allelic heterogeneity having been reported. Association analysis of eight MH candidate loci in UK families has indicated that several genes influence susceptibility in individual families, rather than MH simply being a major gene defect. In support of this hypothesis, we present data on a replica analysis of an independent sample of European MH families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium Channels, L-Type / genetics
  • Calcium Signaling / drug effects
  • Chromosomes, Human, Pair 1 / genetics
  • Family
  • Female
  • Genetic Heterogeneity
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Male
  • Malignant Hyperthermia / etiology
  • Malignant Hyperthermia / genetics*
  • Muscle, Skeletal / drug effects
  • Muscle, Skeletal / metabolism
  • Pedigree
  • Phenotype
  • Ryanodine Receptor Calcium Release Channel / genetics

Substances

  • Calcium Channels, L-Type
  • Genetic Markers
  • Ryanodine Receptor Calcium Release Channel