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rdf:type |
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lifeskim:mentions |
|
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pubmed:issue |
7
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pubmed:dateCreated |
1997-1-16
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pubmed:databankReference |
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pubmed:abstractText |
Missense mutations in the presenilin 2 (PS-2) gene on chromosome 1 were sought by direct nucleotide sequence analysis of the open reading frame of 60 pedigrees with familial Alzheimer's disease (FAD). In the majority of these pedigrees, PS-1 and beta-amyloid precursor protein (beta APP) gene mutations had been excluded. While no additional PS-2 pathogenic mutations were detected, four silent nucleotide substitutions and alternative splicing of nucleotides 1338-1340 (Glu325) were observed. Analysis of additional members of a pedigree known to segregate a Met239Val mutation in PS-2 revealed that the age of onset of symptoms is highly variable (range 45-88 years). This variability is not attributable to differences in ApoE genotypes. These results suggest (i) that, in contrast to mutations in PS-1, mutations in PS-2 are a relatively rare cause of FAD; (ii) that other genetic or environmental factor modify the AD phenotype associated with PS-2 mutations; and (iii) that still other FAD susceptibility genes remain to be identified.
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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 |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0964-6906
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pubmed:author |
pubmed-author:AgidYY,
pubmed-author:AmaducciLL,
pubmed-author:BriceAA,
pubmed-author:CampionDD,
pubmed-author:ChoFF,
pubmed-author:Clerget-DarpouxFF,
pubmed-author:FrebourgTT,
pubmed-author:FroelichSS,
pubmed-author:IkedaMM,
pubmed-author:LannfeltLL,
pubmed-author:LevesqueGG,
pubmed-author:LiangYY,
pubmed-author:LiuJJ,
pubmed-author:MaiGG,
pubmed-author:MarcosJJ,
pubmed-author:NacmiasBB,
pubmed-author:PercyM EME,
pubmed-author:PiacentiniSS,
pubmed-author:RogaevE IEI,
pubmed-author:RogaevaE AEA,
pubmed-author:RommensJ MJM,
pubmed-author:SherringtonRR,
pubmed-author:SorbiSS,
pubmed-author:St George-HyslopP HPH
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pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
985-8
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pubmed:dateRevised |
2010-5-27
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pubmed:meshHeading |
pubmed-meshheading:8817335-Age of Onset,
pubmed-meshheading:8817335-Aged,
pubmed-meshheading:8817335-Aged, 80 and over,
pubmed-meshheading:8817335-Alzheimer Disease,
pubmed-meshheading:8817335-Apolipoproteins E,
pubmed-meshheading:8817335-DNA Mutational Analysis,
pubmed-meshheading:8817335-Female,
pubmed-meshheading:8817335-Humans,
pubmed-meshheading:8817335-Male,
pubmed-meshheading:8817335-Membrane Proteins,
pubmed-meshheading:8817335-Middle Aged,
pubmed-meshheading:8817335-Molecular Sequence Data,
pubmed-meshheading:8817335-Pedigree,
pubmed-meshheading:8817335-Point Mutation,
pubmed-meshheading:8817335-Presenilin-2
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pubmed:year |
1996
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pubmed:articleTitle |
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
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pubmed:affiliation |
Department of Medicine, University of Toronto, Ontario, Canada.
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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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