A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia
| Autor: | Jeanette Derdemezi, Junichi Fujii, Elizabeth F. Gillard, Stella de Leon, David H. MacLennan, Catherine Duff, Vijay K. Khanna, Ronald G. Worton, Beverley A. Britt, Kinya Otsu |
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| Rok vydání: | 1991 |
| Předmět: |
Male
medicine.medical_specialty Arginine Adolescent Molecular Sequence Data Restriction Mapping Muscle Proteins Biology medicine.disease_cause Polymerase Chain Reaction White People Internal medicine Caffeine Genetics medicine Humans Receptors Cholinergic Amino Acid Sequence Cysteine Cloning Molecular Gene RYR1 Mutation Base Sequence Ryanodine receptor Malignant hyperthermia Ryanodine Receptor Calcium Release Channel Exons medicine.disease Phenotype Endocrinology Oligodeoxyribonucleotides Cancer research Female Halothane Malignant Hyperthermia Central core disease |
| Zdroj: | Genomics. 11(3) |
| ISSN: | 0888-7543 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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