Key result
Monoallelic Prdm16 mutation impairs cardiac performance in mice, driving worse dysfunction in females and metabolic alterations.
Why the study?
Mutation of PRDM16 causes dilated and non-compaction cardiomyopathy, but early pathological events occurring upon Prdm16 inactivation have not been explored.
Population
Male and female Prdm16csp1/wt mice carrying systemic monoallelic Prdm16 gene inactivation
Comparison
Male and female Prdm16csp1/wt mice
Design
Preclinical pathophysiological and multi-omic study
Follow-up
Up to 8 months
Authors
Loading...
Hypothesis-generating for sex-specific PRDM16 cardiomyopathy; extends genetic links but leaves open human translation.
Monoallelic Prdm16 mutation in mice leads to early metabolic dysregulation and diminished cardiac performance, with a more pronounced phenotype in females, suggesting metabolic changes precede structural cardiomyopathy.
Kühnisch et al. (2023) studied this question. Monoallelic Prdm16 mutation in mice leads to diminished cardiac performance, with more pronounced dysfunction in female mice and sex-specific metabolic alterations.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: