May 11, 2010AnesthesiologyOpen Access

Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA

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Population

HEK-293 cells expressing normal and mutated forms of human skeletal muscle ryanodine receptor complementary…

Comparison

Expression of mutated forms of human skeletal… vs Expression of normal human skeletal muscle…

Design

Preclinical

Authors

KSKeisaku SatoIndiana University School of Medicine NPNeil PollockPalmerston North Hospital KSKathryn M. StowellMassey University

Discussion

Member takes

Implication

May support RYR1 functional validation for MH diagnosis; leaves open clinical use pending human data.

Structured PICO

Population

HEK-293 cells expressing normal and mutated forms of human skeletal muscle ryanodine receptor complementary DNA

Intervention

Expression of mutated forms of human skeletal muscle ryanodine receptor (including H4833Y)

Comparator

Expression of normal human skeletal muscle ryanodine receptor

Outcome

Functional analysis using ryanodine binding assays in the presence of a specific agonist (4-chloro-m-cresol) and antagonist (Mg2+)surrogate

Functional assays using recombinant human skeletal muscle ryanodine receptor validate the H4833Y mutation for the genetic diagnosis of malignant hyperthermia.

Cite This Study

Sato et al. (2010) studied this question.

synapsesocial.com/papers/6a704439b27f15817827464d https://doi.org/10.1097/aln.0b013e3181d69283

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Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider