Research
Hormonal
Mutations in the AMPK gamma-2 subunit (PRKAG2) cause a gain-of-function effect leading to excessive glycogen storage and cardiac hypertrophy.
For individuals with PRKAG2 mutations, excessive AMPK activity leads to dangerous glycogen accumulation in the heart. This highlights the importance of precise regulation of energy-sensing pathways in cardiac tissue.
StrongSupportsVERY_HIGH confidence
Mutations in the gamma2 subunit cause heart disease due to excessive glycogen storage in cardiac myocytes, leading to ventricular pre-excitation.
Why this rating
Based on clear genetic evidence, transgenic mouse models, and human family studies.
Source
<scp>AMP</scp>‐activated protein kinase: a key regulator of energy balance with many roles in human disease
D. Grahame Hardie · Journal of Internal Medicine · 2014
DOI 10.1111/joim.12268
narrative_reviewCited 273×
Read the paper DOI resolved against Crossref · corpus check 2026-06-10
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