PRDM16 and Cardiomyopathies

PR domain containing 16 (PRDM16) is a transcriptional regulator involved in several biological processes. Our group recently demonstrated that the loss of the PRDM16 locus in humans affected by chromosome 1p36 deletion syndrome is sufficient to cause two types of cardiomyopathies: non-compaction cardiomyopathy (NCM) and dilated cardiomyopathy (DCM).

Our lab is currently investigating the mechanisms by which loss of Prdm16 causes these cardiac phenotypes in a sex-dependent manner, as female sex confers a higher risk for DCM and mortality in individuals lacking PRDM16. We and others have shown that cardiac deficiency of Prdm16 in mice causes NCM, DCM, and heart failure, and we are currently working to determine the biological mechanisms driving this sex-specific increase in cardiac mortality risk.