Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

Nature ◽  
1994 ◽  
Vol 369 (6481) ◽  
pp. 556-559 ◽  
Author(s):  
Hiroshi Takeshima ◽  
Masamitsu lino ◽  
Hiroaki Takekura ◽  
Miyuki Nishi ◽  
Junko Kuno ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Ryanodine Receptor ◽  
Receptor Gene

A brain-specific transcript from the 3′-terminal region of the skeletal muscle ryanodine receptor gene

FEBS Letters ◽  
1993 ◽  
Vol 322 (2) ◽  
pp. 105-110 ◽  
Author(s):  
Hiroshi Takeshima ◽  
Seiichiro Nishimura ◽  
Miyuki Nishi ◽  
Michiko Ikeda ◽  
Tetsuo Sugimoto
Keyword(s):  
Skeletal Muscle ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Terminal Region ◽  
Specific Transcript

scholarly journals Identification and Biochemical Characterization of a Novel Ryanodine Receptor Gene Mutation Associated with Malignant Hyperthermia

2008 ◽  
Vol 108 (2) ◽  
pp. 208-215 ◽  
Author(s):  
Ayuk A. Anderson ◽  
Rosemary L. Brown ◽  
Brenda Polster ◽  
Neil Pollock ◽  
Kathryn M. Stowell
Keyword(s):  
Skeletal Muscle ◽  
Malignant Hyperthermia ◽  
B Lymphocytes ◽  
Ryanodine Receptor ◽  
Calcium Release ◽  
Dna Analysis ◽  
Biochemical Characterization ◽  
Receptor Gene ◽  
Diagnostic Tools

Background Mutations in the skeletal muscle ryanodine receptor gene may result in altered calcium release from sarcoplasmic reticulum stores, giving rise to malignant hyperthermia (MH). MH is a pharmacogenetic skeletal muscle disorder triggered by volatile anesthetics and depolarizing muscle relaxants. Diagnosis of MH is by in vitro contracture testing of quadriceps muscle. DNA analysis of causative mutations is limited by the large number of mutations that cosegregate with MH and the relatively few that have been biochemically characterized. Methods DNA sequence analysis was used to screen the skeletal muscle ryanodine receptor gene in MH-susceptible individuals. A diagnostic test using real-time polymerase chain reaction was developed to detect the mutation in individuals diagnosed as MH susceptible by in vitro contracture testing. The functional relevance of this mutation was examined in Epstein-Barr virus-immortalized B-lymphoblastoid cells. Results A novel ryanodine receptor mutation (cytosine 14997 thymine resulting in a histidine 4833 tyrosine substitution) was identified in pathology specimens from two patients with fatal MH reactions. B lymphocytes from patients with this mutation were approximately twofold more sensitive than MH-negative cells to activation with 4-chloro-m-cresol. The amount of Ca released from B lymphocytes of MH-susceptible patients was significantly greater than that released from cells of family members without this mutation. Haplotype analysis suggests that both families had a common ancestor. Conclusions DNA analysis to detect mutations which cosegregate with MH as well as biochemical assays on cultured lymphocytes obtained from blood can serve as useful diagnostic tools for MH susceptibility and genotype-phenotype correlations.

Analysis of expression of the human ryanodine receptor gene in malignant hyperthermia skeletal muscle tissue

1991 ◽  
Vol 19 (1) ◽  
pp. 46S-46S ◽  
Author(s):  
C. M. Gillian ◽  
J.J.A. Heffron ◽  
M. Lehane ◽  
A. Marks ◽  
T.V. McCarthy
Keyword(s):  
Skeletal Muscle ◽  
Malignant Hyperthermia ◽  
Ryanodine Receptor ◽  
Muscle Tissue ◽  
Receptor Gene ◽  
Skeletal Muscle Tissue

scholarly journals Regulation of Tissue-specific Expression of the Skeletal Muscle Ryanodine Receptor Gene

1996 ◽  
Vol 271 (9) ◽  
pp. 4763-4769 ◽  
Author(s):  
Sabine Schmoelzl ◽  
Tosso Leeb ◽  
Heinrich Brinkmeier ◽  
Gottfried Brem ◽  
Bertram Brenig
Keyword(s):  
Skeletal Muscle ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Specific Expression ◽  
Tissue Specific ◽  
Tissue Specific Expression
Sign in / Sign up

Export Citation Format

Share Document