Presenilin 1 is essential for cardiac morphogenesis

Dev Dyn. 2004 Aug;230(4):795-9. doi: 10.1002/dvdy.20098.


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.

MeSH terms

  • Animals
  • Detergents / pharmacology
  • Heart / embryology*
  • Heterozygote
  • Immunohistochemistry
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology*
  • Mesoderm / metabolism
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Mutation
  • Myocardium / pathology
  • Octoxynol / pharmacology
  • Phenotype
  • Presenilin-1
  • Time Factors


  • Detergents
  • Membrane Proteins
  • Presenilin-1
  • Octoxynol