Literature DB >> 1774074

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.

E F Gillard1, K Otsu, J Fujii, V K Khanna, S de Leon, J Derdemezi, B A Britt, C L Duff, R G Worton, D H MacLennan.   

Abstract

Malignant hyperthermia (MH) is a devastating, potentially lethal response to anesthetics that occurs in genetically predisposed individuals. The skeletal muscle ryanodine receptor (RYR1) gene has been linked to porcine and human MH. Furthermore, a Cys for Arg substitution tightly linked to, and potentially causative of, porcine MH has been identified in the ryanodine receptor. Analysis of 35 human families predisposed to malignant hyperthermia has revealed the presence, and cosegregation with phenotype, of the corresponding substitution in a single family. This substitution, by analogy to the findings in pig, may be causal for predisposition to MH in this family.

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Year:  1991        PMID： 1774074     DOI： 10.1016/0888-7543(91)90084-r

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  57 in total

1.  Detecting susceptibility to malignant hyperthermia.

Authors:  F R Ellis
Journal:  BMJ       Date:  1992-03-28

2.  Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release.

Authors:  Guo Guang Du; Vijay K Khanna; Xinghua Guo; David H MacLennan
Journal:  Biochem J       Date:  2004-09-01       Impact factor: 3.857

3.  Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.

Authors:  Cecilia Giulivi; Catherine Ross-Inta; Alicja Omanska-Klusek; Eleonora Napoli; Danielle Sakaguchi; Genaro Barrientos; Paul D Allen; Isaac N Pessah
Journal:  J Biol Chem       Date:  2010-10-26       Impact factor: 5.157

4.  Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

Authors:  T Deufel; A Golla; D Iles; A Meindl; T Meitinger; D Schindelhauer; A DeVries; D Pongratz; D H MacLennan; K J Johnson
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

Review 5.  Genetic analysis of voltage-dependent calcium channels.

Authors:  C F Fletcher; N G Copeland; N A Jenkins
Journal:  J Bioenerg Biomembr       Date:  1998-08       Impact factor: 2.945

6.  Mind the magnesium, in dantrolene suppression of malignant hyperthermia.

Authors:  Stephen C Cannon
Journal:  Proc Natl Acad Sci U S A       Date:  2017-04-25       Impact factor: 11.205

7.  Genetic epidemiology of malignant hyperthermia in the UK.

Authors:  D M Miller; C Daly; E M Aboelsaod; L Gardner; S J Hobson; K Riasat; S Shepherd; R L Robinson; J G Bilmen; P K Gupta; M-A Shaw; P M Hopkins
Journal:  Br J Anaesth       Date:  2018-08-17       Impact factor: 9.166

Review 8.  Ryanodine receptor patents.

Authors:  Alexander Kushnir; Andrew R Marks
Journal:  Recent Pat Biotechnol       Date:  2012-12

9.  Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Authors:  Haiyan Zhou; Suzanne Lillis; Ryan E Loy; Farshid Ghassemi; Michael R Rose; Fiona Norwood; Kerry Mills; Safa Al-Sarraj; Russell J M Lane; Lucy Feng; Emma Matthews; Caroline A Sewry; Stephen Abbs; Stefan Buk; Michael Hanna; Susan Treves; Robert T Dirksen; Gerhard Meissner; Francesco Muntoni; Heinz Jungbluth
Journal:  Neuromuscul Disord       Date:  2010-01-18       Impact factor: 4.296

Review 10.  Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Authors:  Sheila Riazi; Natalia Kraeva; Philip M Hopkins
Journal:  Anesthesiology       Date:  2018-01       Impact factor: 7.892
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