title: Presenilin 1 is essential for cardiac morphogenesis.
abstract: 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.
authors.affiliation: Department of Molecular Gerontology, Tokyo Metropolitan Institute of Gerontology, Itabashi-ku, Tokyo, Japan.
authors.forename: Mitsunari
authors.initials: M
authors.lastname: Nakajima
authors.forename: Eiko
authors.initials: E
authors.lastname: Moriizumi
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Koseki
authors.forename: Takuji
authors.initials: T
authors.lastname: Shirasawa
mesh_terms: 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
chemical_list: D003902:Detergents; D008565:Membrane Proteins; D053764:Presenilin-1; D017830:Octoxynol