Why the study?
Mutations in PRKAG2 cause glycogen storage-associated HCM, but patient-specific models were needed to understand ancestry-specific differences in pathophysiology.
The generation of this patient-specific iPSC line provides a model to study ancestry-specific differences in the pathophysiology of PRKAG2-associated hypertrophic cardiomyopathy.
Patient-specific iPSC line for PRKAG2 HCM enables disease modeling; leaves open validation for mechanistic or therapeutic use.
PRKAG2 is the ɣ2 regulatory subunit of the 5' AMP-activated protein kinase involved in cellular ATP metabolic regulation. Mutations in the PRKAG2 gene are known to cause glycogen storage-associated hypertrophic cardiomyopathy (HCM). We identified a South Asian Indian patient with HCM harbouring the PRKAG2 c. 905 G > A (p. R302Q) and generated an induced pluripotent stem cell (iPSC) line using peripheral blood mononuclear cells (PBMCs). The generated iPSC line displayed embryonic stem cell morphology, pluripotency markers, normal karyotype, and differentiated into three germ layers. This Indian patient-specific iPSC line will help in understanding the ancestry-specific differences in the pathophysiology of HCM.
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Chittora et al. (2025) studied this question.
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