Center for Cardiovascular and Pulmonary Research
Research Study: Genetic Testing of Individuals & Families with Congenital Heart Disease
The human heart is the first functional fetal organ and undergoes several stages of development before birth. However, the underlying biology that dictates proper heart development remains poorly understood.
Investigators at Nationwide Children’s Hospital are focused on understanding the molecular pathways that regulate normal and abnormal heart development. Using mouse models, they are studying heart disease at the molecular level in order to identify essential cardiac regulators of heart development. They are also interested in understanding how genetic mutations disrupt normal cardiac development. These studies could help develop new ways to prevent, diagnose and care for congenital heart disease.
Learn about the Center for Cardiovascular and Pulmonary Research at The Research Institute at Nationwide Children’s Hospital
Rap1’s Role in the Surface of Microvascular Smooth Muscle Cells
This article discusses studies that support the idea that Rap1 plays a role in vascular bed-specific physiology and suggest its role in vasoconstriction.
Access an abstract of this study: Cyclic AMP-Rap1A Signaling Activates RhoA to Induce α2C-Adrenoceptor Translocation to the Cell Surface of Microvascular Smooth Muscle Cells. Am J Physiol Cell Physiol. 2012 May 23. [Epub ahead of print]
GATA4 Mutations Linked to Heart Function Deficits
This study suggests that a particular mutation in the GATA4 gene leads to defects in heart cell proliferation during heart development, which may contribute to congenital heart defects in humans.
Access an abstract of this study: Congenital heart disease-causing gata4 mutation displays functional deficits in vivo. PLoS Genet. 2012 May;8(5):e1002690.
Notch2 and Notch3 Function Together to Regulate Vascular Smooth Muscle Development
These data highlight the combined actions of the Notch receptors in the regulation of vascular development, and suggest that while these receptors exhibit compensatory roles in smooth muscle, their functions are not entirely overlapping.
Access an abstract of this study: Notch2 and notch3 function together to regulate vascular smooth muscle development. PLoS One. 2012;7(5):e37365. Epub 2012 May 17.