Cell Polarization Defects in Early Heart Development
July 2007
in “
Circulation Research
”
TLDR Defects in certain proteins cause major heart abnormalities during early development.
The study by Phillips et al. implicated Planar Cell Polarity (PCP) signaling in early heart development in mice, focusing on the roles of Scrib and Vangl2 proteins. Scrib-deficient mice exhibited disorganized cardiomyocytes, incomplete heart looping, and various heart defects, while double heterozygotes showed similar phenotypes. The findings suggested that Scrib is crucial for cell polarity and migration during a specific developmental window, and its absence disrupts Vangl2 localization. The study highlighted the potential of PCP proteins as candidate genes for congenital heart disease and suggested that PCP defects might contribute to cardiac abnormalities in ciliopathy patients.
