Key result
PRDM16-Q187X variant drives LVNC by impairing myocardial development and altering TGF-β signaling.
Why the study?
Loss of PRDM16 expression is linked to cardiomyopathy in mice, but its role in human cardiomyopathy development remains unclear.
Population
2 probands with PRDM16 loss-of-function variants, plus human iPSC-derived cardiomyocytes and knock-in mice
Comparison
PRDM16 loss-of-function variants vs wild-type controls
Design
Translational human genetic, in vitro iPSC, and knock-in mouse study
Authors
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PRDM16 loss-of-function variants may underlie noncompaction cardiomyopathy; leaves open screening utility and targeted therapies.
Novel loss-of-function PRDM16 variants impair myocardial development and alter TGF-β signaling, causing noncompaction cardiomyopathy in humans and mice.
Sun et al. (2023) studied Left ventricular noncompaction cardiomyopathy (n=2). PRDM16 loss-of-function variants (Q187X) vs. Wild-type was evaluated on Myocardial development and TGF-β signaling. The PRDM16-Q187X loss-of-function variant impairs myocardial development and alters TGF-β signaling, resulting in left ventricular noncompaction cardiomyopathy in humans and mice.
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