Several interacting genes influence the malignant hyperthermia phenotype.
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.
Robinson
Rachel
R
MH Investigation Unit, Academic Unit of Anaesthesia, St James University Hospital, Leeds, LS9 7TF, UK. medrlr@stjames.leeds.ac.uk
Hopkins
Philip
P
Carsana
Antonella
A
Gilly
Hermann
H
Halsall
Jane
J
Heytens
Luc
L
Islander
Gunilla
G
Jurkat-Rott
Karin
K
Müller
Clemens
C
Shaw
Marie-Anne
MA
D020746:Calcium Channels, L-Type / Q000235:genetics; D020013:Calcium Signaling / Q000187:drug effects; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005190:Family; D005260:Female; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008305:Malignant Hyperthermia / Q000209:etiology / Q000235:genetics*; D018482:Muscle, Skeletal / Q000187:drug effects / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics
D020746:Calcium Channels, L-Type; D005819:Genetic Markers; D019837:Ryanodine Receptor Calcium Release Channel