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.
Nakajima
Mitsunari
M
Department of Molecular Gerontology, Tokyo Metropolitan Institute of Gerontology, Itabashi-ku, Tokyo, Japan.
Moriizumi
Eiko
E
Koseki
Haruhiko
H
Shirasawa
Takuji
T
D000818:Animals; D003902:Detergents / Q000494:pharmacology; D006321:Heart / Q000196:embryology*; D006579:Heterozygote; D007150:Immunohistochemistry; D008565:Membrane Proteins / Q000235:genetics / Q000502:physiology*; D008648:Mesoderm / Q000378:metabolism; D051379:Mice; D008810:Mice, Inbred C57BL; D008822:Mice, Transgenic; D009154:Mutation; D009206:Myocardium / Q000473:pathology; D017830:Octoxynol / Q000494:pharmacology; D010641:Phenotype; D053764:Presenilin-1; D013997:Time Factors
D003902:Detergents; D008565:Membrane Proteins; D053764:Presenilin-1; D017830:Octoxynol