P387Knock-in mouse model of PRKAG2 cardiomyopathy (R299Q) exhibits altered Ca2+-dependent cardiac contractility and reduced protein kinase A activity.
Familial hypertrophic cardiomyopathy (HCM) is most commonly caused by mutations in sarcomeric proteins; however, a unifying mechanism of disease pathogenesis has yet to be identified. Beyond the sarcomere, mutations in the gene (PRKAG2) encoding the γ2 subunit of AMP-activated protein kinase (AMPK), an enzyme involved in energy balance regulation and cell signalling, cause ventricular hypertrophy and contractile dysfunction mimicking HCM. These AMPK γ2 mutations also result in glycogen accumu...Expand abstract
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