PMID: 8602662Feb 1, 1996Paper

Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family

Anesthesiology
K D SerfasC R Greenberg

Abstract

Malignant hyperthermia (MH) is an important cause of anesthesia-induced death. Malignant hyperthermia susceptibility is diagnosed using the in vitro caffeine/halothane contracture test (CHCT) in fresh muscle biopsy specimens. The CHCT test is highly invasive, expensive, and lacks 100% specificity. Genetic and biochemical evidence provide strong support for the view that the substitution of cysteine for arginine 614 (Arg614Cys) in the human ryanodine receptor gene is one of several mutations that are likely to cause human MH. DNA testing was compared with CHCT as a means of predicting MH susceptibility in a large MH family in which the Arg614Cys mutation was detected. A comparison of CHCT and DNA-based diagnosis was conducted in a large Manitoba Mennonite MH kindred identified by an index patient who died at age 45 yr of an MH crisis after general anesthesia. The presence of the Arg614Cys mutation was detected through a combination of polymerase chain reaction and restriction endonuclease digestion. Blood samples for DNA analysis were obtained from 68 family members, including 19 who had undergone muscle biopsies and 1 who had a documented crisis but did not undergo biopsy. Family members were classified as MH-susceptible or MH-...Continue Reading

References

May 8, 1992·Science·D H MacLennan, M S Phillips
Mar 1, 1990·Biophysical Journal·M FillC F Louis
Jan 1, 1993·The American Journal of Physiology·N H ShomerJ R Mickelson
May 1, 1994·Anaesthesia·P M HopkinsF R Ellis
Feb 1, 1993·Journal of Medical Genetics·S P Ball, K J Johnson

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Citations

Dec 11, 1999·Muscle & Nerve·K Jurkat-RottF Lehmann-Horn
Apr 26, 2007·Orphanet Journal of Rare Diseases·Henry RosenbergKathryn Stowell
Mar 19, 2008·American Journal of Medical Genetics. Part a·Noelle C OrtonN Torben Bech-Hansen
Jun 17, 1998·The American Journal of Medicine·J Loke, D H MacLennan
Aug 5, 2015·Orphanet Journal of Rare Diseases·Henry RosenbergKathryn Stowell
Jun 1, 1997·American Journal of Human Genetics·K Hogan
Dec 28, 2016·Anesthesia and Analgesia·Gregory E R Weller
Nov 18, 2009·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·A R MatosR T Sudo

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