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Doctor of Philosophy, (Biochemistry)
Study Completed: 2013
College of Sciences
Functional and structural characterisation of the Malignant Hyperthermia associated RYR1 mutation R2452W
Malignant hyperthermia is genetic disorder of skeletal muscle triggered by volatile anaesthetics. Susceptible individuals exhibit symptoms including rapid and irregular heart beat, high temperature and skeletal muscle rigidity which can lead to death. Mutations in the ryanodine receptor have been previously associated with Malignant Hyperthermia. Ms Roesl functionally characterised the ryanodine receptor R2452W mutation and was able to show that this mutation causes abnormal function of the ryanodine receptor and could cause Malignant Hyperthermia. This work is an important addition to the international effort aimed at characterising mutations in order to offer DNA-based diagnostic testing for Malignant Hyperthermia in susceptible families.
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Last updated on Tuesday 04 April 2017