{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPRKAG2 encodes the γ2 regulatory subunit of AMP‐activated protein kinase (AMPK), a central energy sensor that orchestrates cellular and systemic metabolic homeostasis. Beyond its well‐established role in modulating nephrogenesis, solute transport, and angiogenesis in the kidney—where genome‐wide studies have implicated it as a susceptibility locus for reduced renal function ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "]—PRKAG2 serves as a multifunctional regulator in several tissues.\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the myocardium, mutations in PRKAG2 result in a distinctive cardiomyopathy marked by ventricular pre‐excitation, conduction system disease, and cardiac hypertrophy, with striking features of intracellular glycogen accumulation. Studies in affected families and in experimental models—including transgenic mice and human induced pluripotent stem cell–derived cardiomyocytes—demonstrate that these mutations disrupt the normal nucleotide (AMP/ATP) binding to the cystathionine beta‐synthase (CBS) domains of AMPK. The ensuing constitutive or “uncoupled” activation of AMPK, even in the absence of energy deficit, triggers extensive remodeling of substrate metabolism, promotes glycogen storage, perturbs ion channel and pacemaker functions (leading to bradycardia), and ultimately gives rise to conditions manifesting as Wolff–Parkinson–White syndrome and glycogen storage cardiomyopathy ["}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "34"}]}, {"type": "t", "text": "].\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nEmerging evidence further indicates that genetic variation in PRKAG2 extends its influence beyond the heart. Variants in PRKAG2 have been associated with altered pharmacogenomic responses—such as variability in blood pressure reduction following diuretic therapy—and may contribute to systemic metabolic and even cognitive functions. Additionally, insights into its role in regulating cellular entry pathways have been observed in studies linking PRKAG2 function to macropinocytic processes exploited by certain viruses. Together, these findings underscore the pleiotropic nature of PRKAG2, emphasizing its critical role in regulating energy metabolism, cellular homeostasis, and electrophysiological properties across diverse biological contexts."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "30"}, {"type": "fg_f", "ref": "33"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Anna Köttgen, Cristian Pattaro, Carsten A Böger, et al. 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