A malignant hyperthermia–inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels

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Population

Cultured myotubes originating from mice carrying a malignant hyperthermia-linked mutation in RYR1 (R163C)

Comparison

RYR1 R163C mutation (homozygous and heterozygous) vs Wild-type (WT) myotubes

Design

Preclinical

Authors

Discussion

Altered DHPR activity in RYR1 R163C models may contribute to MH; leaves open clinical relevance pending human validation.

Population

Cultured myotubes originating from mice carrying a malignant hyperthermia-linked mutation in RYR1 (R163C)

Intervention

RYR1 R163C mutation (homozygous and heterozygous)

Comparator

Wild-type (WT) myotubes

Outcome

Voltage-gated Ca(2+) release from the sarcoplasmic reticulum, membrane-bound charge movement, and L-type Ca(2+) currentsurrogate

The RYR1 R163C mutation alters DHPR activity, suggesting that this altered DHPR function may contribute to malignant hyperthermia episodes.

Bannister et al. (2010) studied this question.

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