Significant improvement of cardiac outflow tract septation defects in a DiGeorge syndrome model after minoxidil treatment.

ABSTRACT: The T-BOX transcription factor TBX1 is essential for the development of the pharyngeal apparatus and it is haploinsufficient in DiGeorge syndrome (DGS), a developmental anomaly associated with congenital heart disease and other abnormalities. The murine model recapitulates the heart phenotype and showed collagen accumulation. We first used a cellular model to study gene expression during cardiogenic differentiation of WT and Tbx1^-/- mouse embryonic stem cells. Then we used a mouse model of DGS to test whether interfering with collagen accumulation using an inhibitor of lysyl hydroxylase would modify the cardiac phenotype of the mutant. We found that loss of Tbx1 in a precardiac differentiation model was associated with up regulation of a subset of ECM-related genes, including se

SUBMITTER: Aurigemma I 

PROVIDER: S-EPMC11166380 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature