Presenilin 1 is essential for cardiac morphogenesis.

Presenilin 1 (PS1) is the gene responsible for the development of early-onset familial Alzheimer's disease. PS1-deficient mice have been reported to show defects in neurogenesis, somitogenesis and angiogenesis. Here, we report cardiac anomaly in PS1-deficient mice: the mutant hearts exhibited ventricular septal defect, double outlet right ventricle, and stenosis in the pulmonary artery. Immunohistochemistry using anti-PS1 antibody revealed the prominent expression of PS1 in mesenchymal cells at the septal area of the wild-type heart. These results suggest that PS1 may play an essential role in heart development.