A SUBSTITUTION OF CYSTEINE FOR ARGININE-614 IN THE RYANODINE RECEPTOR IS POTENTIALLY CAUSATIVE OF HUMAN-MALIGNANT HYPERTHERMIA

被引：288

作者：

GILLARD, EF

OTSU, K

FUJII, J

KHANNA, VK

DELEON, S

DERDEMEZI, J

BRITT, BA

DUFF, CL

WORTON, RG

MACLENNAN, DH

机构：

[1] UNIV TORONTO,CHARLES H BEST INST,BANTING & BEST DEPT MED RES,112 COLL ST,TORONTO M5G 1L6,ONTARIO,CANADA

[2] HOSP SICK CHILDREN,DEPT GENET,TORONTO M5G 1X8,ONTARIO,CANADA

[3] UNIV TORONTO,DEPT MED GENET,TORONTO M5G 1X8,ONTARIO,CANADA

[4] UNIV TORONTO,TORONTO GEN HOSP,DEPT ANAESTHESIA,TORONTO M5G 2C4,ONTARIO,CANADA

[5] UNIV TORONTO,TORONTO GEN HOSP,DEPT PHARMACOL,TORONTO M5G 2C4,ONTARIO,CANADA

来源：

GENOMICS | 1991年 / 11卷 / 03期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/0888-7543(91)90084-R

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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. © 1991.

引用

页码：751 / 755

页数：5

共 15 条

[1]

BRITT BA, 1989, MALIGNANT HYPERTHERM, P53

[2] CHANGES IN THE CA-INDUCED CA RELEASE MECHANISM IN THE SARCOPLASMIC-RETICULUM OF THE MUSCLE FROM A PATIENT WITH MALIGNANT HYPERTHERMIA [J].