Impact of genetic factors on antioxidant rescue of maternal diabetes-associated congenital heart disease.

ABSTRACT: Congenital heart disease (CHD) affects approximately 1% of live births. Although genetic and environmental etiologic contributors have been identified, the majority of CHD lacks a definitive cause, suggesting the role of gene-environment interactions (GxEs) in disease pathogenesis. Maternal diabetes mellitus (matDM) is among the most prevalent environmental risk factors for CHD. However, there is a substantial knowledge gap in understanding how matDM acts upon susceptible genetic backgrounds to increase disease expressivity. Previously, we reported a GxE between Notch1 haploinsufficiency and matDM leading to increased CHD penetrance. Here, we demonstrate a cell lineage-specific effect of Notch1 haploinsufficiency in matDM-exposed embryos, implicating endothelial/endocardial tissues in the

SUBMITTER: Choudhury TZ 

PROVIDER: S-EPMC11623948 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature