title: Alternative transcripts of presenilin-1 associated with frontotemporal dementia.
abstract: We have analyzed the expression of Alzheimer's disease-associated presenilin 1 (PS1) in various neurodegenerative disorders. Western blotting identified PS1 N- and C-terminal fragments similarly in the cortex of controls, Parkinson, Huntington and schizophrenia subjects. Additional PS1 immunoreactive species of 42 and 46 kDa were present in six out of seven cases of sporadic frontotemporal dementia (FTD) and these were particularly prominent in two cases. RT-PCR analysis using nested primers showed the presence of PS1 gene products with deletions within the exon 4-8 region. Our results suggest that alternative transcription of PS1 may be associated with FTD.
authors.affiliation: Department of Pathology, The University of Melbourne, and Mental Health Research Institute, Parkville, Victoria 3010, Australia.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Evin
authors.forename: Margaret J
authors.initials: MJ
authors.lastname: Smith
authors.forename: Angela
authors.initials: A
authors.lastname: Tziotis
authors.forename: Catriona
authors.initials: C
authors.lastname: McLean
authors.forename: Louise
authors.initials: L
authors.lastname: Canterford
authors.forename: Robyn A
authors.initials: RA
authors.lastname: Sharples
authors.forename: Roberto
authors.initials: R
authors.lastname: Cappai
authors.forename: Andreas
authors.initials: A
authors.lastname: Weidemann
authors.forename: Konrad
authors.initials: K
authors.lastname: Beyreuther
authors.forename: Richard G H
authors.initials: RG
authors.lastname: Cotton
authors.forename: Colin L
authors.initials: CL
authors.lastname: Masters
authors.forename: Janetta G
authors.initials: JG
authors.lastname: Culvenor
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D001921:Brain / Q000378:metabolism / Q000473:pathology; D003704:Dementia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D020869:Gene Expression Profiling / Q000379:methods / Q000706:statistics & numerical data; D006801:Humans; D008565:Membrane Proteins / Q000096:biosynthesis / Q000235:genetics*; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1