Cause of sudden death from heart attack is determined

A new mutation of type 2 ryanodine receptor (RyR2) has been identified by researchers as the cause of sudden death in mice from heart attacks.

The results of this study, which were published in the journal Proceedings of the National Academy of Sciences, are expected to improve understanding of the pathogenesis of ventricular arrhythmias and cardiac death and contribute to the development of new treatments.

Hereditary arrhythmia is a serious disease caused by genetic abnormalities in ion channels and related molecules that regulate the electrical activity of cardiomyocytes. The disease can lead to fatal arrhythmias and sudden death.

To investigate the pathogenesis of hereditary arrhythmias, which are leading in the cause of sudden cardiac death in young adults, researchers performed electrocardiographic screening of mice that had random genetic mutations.

They successfully identified mice with hereditary rhythm disorders, which led to death. Further genetic study revealed that the cause is a new missense mutation—i.e. point mutation—in the ryanodine receptor type 2 (RyR2: p.I4093V), which plays an important role in the regulation of intracellular calcium; it is necessary for contraction of cardiomyocytes.

A mouse model that exhibits signs of age-related decline in cardiac function and sudden death within the first year of life is expected to make a significant contribution to elucidating the pathogenesis of inherited arrhythmias and evaluating drug efficacy in humans.

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