Disorders caused by RYR1
mutations can share clinical features of both congenital myopathy and CMD.
is well known as a meat quality gene and T allele is associated with reduced meat quality .
In response to heat, mutations in RYR1
cause excessive amounts of calcium to leak from the storage compartment and trigger uncontrolled muscle contractions.
Genotyping was done using a real-time PCR-based system (LightCycler, Roche, and Mannheim, Germany) with hybridization probes specific for the RYR1
Genetic variation in RYR1
and malignant hyperthermia phenotypes.
2+]] at the single cell level following exposure to the RYR1
activators caffeine, halothane and 4-CmC in conjunction with traditional CICR testing.
1), which roughly correspond to the RYR1
regions targeted by mutations causing malignant hyperthermia (MHS1; OMIM 145600) or central core disease (CCD; OMIM 117000) (14-29).
The accelerated group included two individuals carrying an RYR1
mutation and two patients who had experienced an MH episode (CGS 5-6).
Reports of discordance between mutations and IVCT phenotype have called into question the causal role of some RYR1
mutations (31-33), although the lack of specificity of the IVCT (34-37) or the presence of additional MH mutations (31, 37, 38) may account for some discrepancies.
Advances in analysis of the RYR1
gene (which encodes the skeletal muscle ryanodine receptor) show that genetic Examination is a useful adjunct to the in vitro contracture test in the diagnosis of malignant hypothermia, as defects in RYR1
have been shown to be responsible for malignant hyperthermia susceptibility.
If a patient does not have a familial mutation, does the research scientist then start screening the entire RYR1
gene for a second causative mutation, or is an IVCT immediately indicated?
Propofol has not been tested on cultured cells from the patients with RYR1