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Multiple interacting gene products may influence susceptibility to malignant hyperthermia

Published online by Cambridge University Press:  26 July 2016

R. L. ROBINSON
Affiliation:
School of Biology, Miall Building, Clarendon Way, University of Leeds, Leeds LS2 9JT, UK Academic Unit of Anaesthesia, St. James University Hospital, Leeds LS9 7TF, UK
J. L. CURRAN
Affiliation:
Academic Unit of Anaesthesia, St. James University Hospital, Leeds LS9 7TF, UK Molecular Medicine Unit, University of Leeds, St. James University Hospital, Leeds LS9 7TF, UK
F. R. ELLIS
Affiliation:
Academic Unit of Anaesthesia, St. James University Hospital, Leeds LS9 7TF, UK
P. J. HALSALL
Affiliation:
Academic Unit of Anaesthesia, St. James University Hospital, Leeds LS9 7TF, UK
W. J. HALL
Affiliation:
Academic Unit of Anaesthesia, St. James University Hospital, Leeds LS9 7TF, UK
P. M. HOPKINS
Affiliation:
Academic Unit of Anaesthesia, St. James University Hospital, Leeds LS9 7TF, UK
D. E. ILES
Affiliation:
School of Biology, Miall Building, Clarendon Way, University of Leeds, Leeds LS2 9JT, UK
S. P. WEST
Affiliation:
Northern Genetics Service, Molecular Genetics Unit, Ground Floor, Ridley Building, Claremont Place, Newcastle upon Tyne NEI 7RU, UK
M-A. SHAW
Affiliation:
School of Biology, Miall Building, Clarendon Way, University of Leeds, Leeds LS2 9JT, UK
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Abstract

Malignant hyperthermia (MH) is a potentially lethal disorder triggered in susceptible individuals on exposure to common anaesthetic agents. Crises reflect the consequences of disturbed skeletal muscle calcium homeostasis. MH is an autosomal dominant, genetically heterogeneous trait. Defects in a single major gene have been assumed to determine susceptibility status in individual families. However, in some pedigrees phenotypic and genotypic data are discordant. One explanation, in contrast to the current genetic model, is that susceptibility is dependent upon the effects of more than one gene. Using the transmission disequilibrium test we assessed the involvement of 8 MH candidate loci (RYR1, CACNA1S, CACNA2D1, MHS4 at 3q13.1, MHS6 at 5p, LIPE, DM1, dystrophin) by analysis of data from 130 MH nuclear families. Results suggested that variations in more than one gene may influence MH susceptibility in single families.

Type
Research Article
Copyright
University College London 2000

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