Myocardial reprogramming by HMGN1 underlies heart defects in trisomy 21.

ABSTRACT: Congenital heart defects (CHDs) are the most common developmental abnormalities, affecting around 1% of live births¹. Aneuploidy causes around 15% of CHDs, with trisomy 21 (also known as Down syndrome) being the most frequent form². CHDs occur in around 50% of cases of Down syndrome, with an approximately 1,000-fold enrichment of atrioventricular canal (AVC) defects that disrupt the junction between the atria and ventricles^3,4. The AVC contains unique myocardial cells that are essential for valvuloseptal development; however, the specific combination of dosage-sensitive genes on chromosome 21 that are responsible for Down syndrome-associated CHDs have remained unknown. Here, using human pluripotent stem cell and mouse models of Down syndrome, we identify HM

SUBMITTER: Ranade SS 

PROVIDER: S-EPMC12657217 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature