Cardiac Outflow Tract Septation Defects in a DiGeorge Syndrome Model Respond to Minoxidil Treatment

The study investigated the role of TBX1 in heart development and its association with DiGeorge syndrome (DGS). Using both cellular and mouse models, researchers found that loss of Tbx1 led to increased expression of extracellular matrix (ECM)-related genes, including collagen. In a DGS mouse model, early prenatal treatment with Minoxidil, a lysyl hydroxylase inhibitor, improved the cardiac outflow tract septation defects in Tbx1 mutant fetuses, but not in wild-type fetuses. This suggests that TBX1 suppresses certain ECM-related genes and that inhibiting collagen cross-linking can mitigate some effects of Tbx1 mutations.