September 2, 2016Human Mutation

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel

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Population

HEK293 cells expressing 14 mutations at 10 different positions in the central region of RYR1

Design

Preclinical

Authors

TMTakashi MurayamaJuntendo University NKNagomi KurebayashiJuntendo University HOHaruo OgawaKyoto University

Discussion

Member takes

Implication

Mechanisms linking specific RYR1 mutations to distinct MH/CCD phenotypes remain unclear; leaves open mutation-targeted therapies.

Structured PICO

Population

HEK293 cells expressing 14 mutations at 10 different positions in the central region of RYR1 (10 malignant hyperthermia and four malignant hyperthermia/central core disease mutations)

Intervention

14 mutations at 10 different positions in the central region of RYR1

Outcome

Ca2+-induced Ca2+ release (CICR) activity parameters (Ca2+ sensitivity for activation, Ca2+ sensitivity for inactivation, and attainable maximum activity)surrogate

Specific mutations in the central region of the RYR1 channel alter Ca2+-induced Ca2+ release activity in a site-specific manner, explaining divergent disease phenotypes in malignant hyperthermia and central core disease.

Cite This Study

Murayama et al. (2016) studied this question.

synapsesocial.com/papers/6a704439b27f15817827463e https://doi.org/10.1002/humu.23072

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Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider