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 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.

Effects of Fulminant Malignant Hyperthermia to the Oxygen Saturation in Skeletal Muscle Tissue

2002 ◽  
Vol 96 (Sup 2) ◽  
pp. A1002
Author(s):  
Ralf Weisshorn ◽  
Frank Wappler ◽  
Marko Fiege ◽  
Mark U. Gerbershagen ◽  
Jochen Schulte am Esch
Keyword(s):  
Skeletal Muscle ◽  
Malignant Hyperthermia ◽  
Oxygen Saturation ◽  
Muscle Tissue ◽  
Skeletal Muscle Tissue

scholarly journals Recycled algae-based carbon materials as electroconductive 3D printed skeletal muscle tissue engineering scaffolds

2021 ◽  
Vol 32 (7) ◽  
Author(s):  
Selva Bilge ◽  
Emre Ergene ◽  
Ebru Talak ◽  
Seyda Gokyer ◽  
Yusuf Osman Donar ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Tissue Engineering ◽  
Electrical Stimulation ◽  
Muscle Tissue ◽  
Carbonaceous Material ◽  
Hydrothermal Carbonization ◽  
Skeletal Muscle Tissue ◽  
Myotube Formation ◽  
3D Printed

AbstractSkeletal muscle is an electrically and mechanically active tissue that contains highly oriented, densely packed myofibrils. The tissue has self-regeneration capacity upon injury, which is limited in the cases of volumetric muscle loss. Several regenerative therapies have been developed in order to enhance this capacity, as well as to structurally and mechanically support the defect site during regeneration. Among them, biomimetic approaches that recapitulate the native microenvironment of the tissue in terms of parallel-aligned structure and biophysical signals were shown to be effective. In this study, we have developed 3D printed aligned and electrically active scaffolds in which the electrical conductivity was provided by carbonaceous material (CM) derived from algae-based biomass. The synthesis of this conductive and functional CM consisted of eco-friendly synthesis procedure such as pre-carbonization and multi-walled carbon nanotube (MWCNT) catalysis. CM obtained from biomass via hydrothermal carbonization (CM-03) and its ash form (CM-03K) were doped within poly(ɛ-caprolactone) (PCL) matrix and 3D printed to form scaffolds with aligned fibers for structural biomimicry. Scaffolds were seeded with C2C12 mouse myoblasts and subjected to electrical stimulation during the in vitro culture. Enhanced myotube formation was observed in electroactive groups compared to their non-conductive counterparts and it was observed that myotube formation and myotube maturity were significantly increased for CM-03 group after electrical stimulation. The results have therefore showed that the CM obtained from macroalgae biomass is a promising novel source for the production of the electrically conductive scaffolds for skeletal muscle tissue engineering.

Diffusion of water in skeletal muscle tissue is not influenced by compression in a rat model of deep tissue injury

2010 ◽  
Vol 43 (3) ◽  
pp. 570-575 ◽  
Author(s):  
Bastiaan J. van Nierop ◽  
Anke Stekelenburg ◽  
Sandra Loerakker ◽  
Cees W. Oomens ◽  
Dan Bader ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscle Tissue ◽  
Rat Model ◽  
Tissue Injury ◽  
Skeletal Muscle Tissue ◽  
Deep Tissue ◽  
Deep Tissue Injury

scholarly journals Genetics of Malignant Hyperthermia

2006 ◽  
Vol 6 ◽  
pp. 1722-1730 ◽  
Author(s):  
Barbara W. Brandom
Keyword(s):  
Malignant Hyperthermia ◽  
Candidate Genes ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Linkage Studies ◽  
Chromosome 19

Study of the genetics of the malignant hyperthermia syndrome began in families in which both malignant hyperthermia (MH) episodes had been experienced and individuals had strongly positive contracture tests diagnostic of susceptibility to MH. Linkage studies associated this MH phenotype to the ryanodine receptor gene (RYR1) at chromosome 19q13.1 in many families. Although the MH phenotype is not always linked to chromosome 19, theRYR1has remained the focus of experimentation. Other candidate genes exist, but few MH-susceptible families have variants of these genes. Hundreds of MH-susceptible people have variants ofRYR1.

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