Aberrant tissue mechanics and mechanotransduction during heart development in Down syndrome
This study investigates how altered extracellular matrix composition and increased tissue stiffness in Down syndrome contribute to congenital heart defects, particularly septal defects which occur in 70% of individuals with the condition. Using mouse models and iPSC-derived cardiomyocytes with trisomy 21, researchers found that increased collagen and hyaluronic acid stiffness impairs cardiomyocyte proliferation and sarcomere organization, disrupting normal heart development through mechanotransduction pathways.