Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques
作者： Cecile Dumanchin , Isabelle Tournier , Cosette Martin , Mira Didic , Serge Belliard
DOI: 10.1002/HUMU.9458
关键词: Presenilin 、 Molecular biology 、 Cotton wool plaques 、 Mutant 、 Exon 、 Phenotype 、 Mutation 、 Biology 、 Intron 、 RNA splicing 、 Genetics
摘要: We describe the biological consequences on PSEN1 exons 8 or 9 splicing and Aβ peptides production of four mutations associated with a phenotypic variant Alzheimer disease, which includes cotton wool plaques spastic paraparesis (CWP/SP). Two these (c.869-22_869-23ins18 c.871A>C, p.T291P) are novel located in intron exon 9, respectively. The c.869-22_869-23ins18 mutation caused skipping whereas c.871A>C (p.T291P) showed only modest effect skipping. previously reported E280G P264L mutations, 8, had no mRNA splicing. Infection cells mutant T291P, E280G, cDNAs variable increase secreted Aβ42. conclude that none proposed mechanisms, i.e. exceptionally large increases Aβ42 levels loss provides complete explanation CWP/SP phenotype. © 2006 Wiley-Liss, Inc.
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