Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
Population
Human cardiac tissue with PRKAG2 mutations and yeast homologue of PRKAG2, Snf4
Design
Preclinical
Authors
Discussion
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Implication
Questions PRKAG2 cardiomyopathy classification in models; leaves open human validation of metabolic storage disease.
Structured PICO
P
Population
Human cardiac tissue with PRKAG2 mutations (Arg302Gln, Thr400Asn, and Asn488Ile) and yeast homologue of PRKAG2, Snf4
I
Intervention
Introduction of PRKAG2 mutations (Arg302Gln, Thr400Asn, Asn488Ile)
O
Outcome
Cardiac histopathology and Snf1/Snf4 kinase functionsurrogate
PRKAG2 mutations cause a novel myocardial metabolic storage disease characterized by glycogen accumulation, rather than true hypertrophic cardiomyopathy.
Cite This Study
Arad et al. (2002) studied this question.