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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2001-5-29
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pubmed:abstractText |
Both APP and PS-1 are causal genes for early-onset familial Alzheimer's disease (AD) and their mutation effects on cerebral Abeta deposition in the senile plaques were examined in human brains of 29 familial AD (23 PS-1, 6 APP) cases and 14 sporadic AD cases in terms of Abeta40 and Abeta42. Abeta isoform data were evaluated using repeated measures analysis of variance which adjusted for within-subject measurement variation and confounding effects of individual APP and PS-1 mutations, age at onset, duration of illness and APOE genotype. We observed that mutations in both APP and PS-1 were associated with a significant increase of Abeta42 in plaques as been documented previously. In comparison to sporadic AD cases, both APP717 and PS-1 mutation cases had an increased density (measured as the number of plaques/mm(2)) and area (%) of Abeta42 plaques. However, we found an unexpected differential effect of PS-1 but not APP717 mutation cases. At least some of PS-1 but not APP717 mutation cases had the significant increase of density and area of Abeta40-plaques as compared to sporadic AD independently of APOE genotype. Our results suggest that PS-1 mutations affect cerebral accumulation of Abeta burden in a different fashion from APP717 mutations in their familial AD brains.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/APP717,
http://linkedlifedata.com/resource/pubmed/chemical/Amyloid beta-Peptides,
http://linkedlifedata.com/resource/pubmed/chemical/Amyloid beta-Protein Precursor,
http://linkedlifedata.com/resource/pubmed/chemical/Apolipoproteins E,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/PSEN1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Peptide Fragments,
http://linkedlifedata.com/resource/pubmed/chemical/Presenilin-1,
http://linkedlifedata.com/resource/pubmed/chemical/amyloid beta-protein (1-40),
http://linkedlifedata.com/resource/pubmed/chemical/amyloid beta-protein (1-42)
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pubmed:status |
MEDLINE
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pubmed:issn |
0197-4580
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pubmed:author |
pubmed-author:CairnsN JNJ,
pubmed-author:FarrerL ALA,
pubmed-author:FraserP EPE,
pubmed-author:HasegawaTT,
pubmed-author:IoMM,
pubmed-author:IshiiKK,
pubmed-author:KalariaR NRN,
pubmed-author:LantosP LPL,
pubmed-author:LippaCC,
pubmed-author:MiyatakeFF,
pubmed-author:MoriHH,
pubmed-author:NeeL ELE,
pubmed-author:OhtakeTT,
pubmed-author:OzawaKK,
pubmed-author:PollenD ADA,
pubmed-author:RossorM NMN,
pubmed-author:ShojiSS,
pubmed-author:St George-HyslopP HPH,
pubmed-author:TamaokaAA,
pubmed-author:TomiyamaTT
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pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
367-76
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:11378241-Adult,
pubmed-meshheading:11378241-Age of Onset,
pubmed-meshheading:11378241-Aged,
pubmed-meshheading:11378241-Alzheimer Disease,
pubmed-meshheading:11378241-Amyloid beta-Peptides,
pubmed-meshheading:11378241-Amyloid beta-Protein Precursor,
pubmed-meshheading:11378241-Apolipoproteins E,
pubmed-meshheading:11378241-Cell Count,
pubmed-meshheading:11378241-Female,
pubmed-meshheading:11378241-Genotype,
pubmed-meshheading:11378241-Humans,
pubmed-meshheading:11378241-Immunohistochemistry,
pubmed-meshheading:11378241-Male,
pubmed-meshheading:11378241-Membrane Proteins,
pubmed-meshheading:11378241-Middle Aged,
pubmed-meshheading:11378241-Mutation,
pubmed-meshheading:11378241-Mutation, Missense,
pubmed-meshheading:11378241-Peptide Fragments,
pubmed-meshheading:11378241-Plaque, Amyloid,
pubmed-meshheading:11378241-Presenilin-1
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pubmed:articleTitle |
Distinguishable effects of presenilin-1 and APP717 mutations on amyloid plaque deposition.
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pubmed:affiliation |
Department of Molecular Biology, Tokyo Institute of Psychiatry, Tokyo, Japan
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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