Alternative transcripts of presenilin-1 associated with frontotemporal dementia.
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.
Evin
Geneviève
G
Department of Pathology, The University of Melbourne, and Mental Health Research Institute, Parkville, Victoria 3010, Australia.
Smith
Margaret J
MJ
Tziotis
Angela
A
McLean
Catriona
C
Canterford
Louise
L
Sharples
Robyn A
RA
Cappai
Roberto
R
Weidemann
Andreas
A
Beyreuther
Konrad
K
Cotton
Richard G H
RG
Masters
Colin L
CL
Culvenor
Janetta G
JG
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
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1