An intronic polymorphism in the presenilin-1 gene does not influence the amount or molecular form of the amyloid beta protein deposited in Alzheimer's disease

被引：13

作者：

Mann, DMA

PickeringBrown, SM

Bayatti, NN

Wright, AE

Owen, F

Iwatsubo, T

Saido, TC

机构：

[1] UNIV MANCHESTER,SCH BIOL SCI,DIV NEUROSCI,MANCHESTER,LANCS,ENGLAND

[2] UNIV TOKYO,DEPT NEUROPATHOL & NEUROSCI,TOKYO,JAPAN

[3] TOKYO METROPOLITAN INST MED SCI,DEPT MOL BIOL,TOKYO 113,JAPAN

来源：

NEUROSCIENCE LETTERS | 1997年 / 222卷 / 01期

基金：

英国惠康基金;

关键词：

Alzheimer's disease; presenilin-1; gene; polymorphism; amyloid beta protein;

D O I：

10.1016/S0304-3940(97)13342-0

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The frequency of the allele-1 polymorphism in intron 8 of the presenilin-1 (PS-1) gene, and the proportion of individuals homozygous in this respect, was investigated in 57 patients with autopsy verified Alzheimer's disease (AD). In 33 of these patients the amount of amyloid beta protein (A beta) was compared across the three PS-1 genotype groups (1/1, 1/2, 2/2). No excess of the allele-1 was detected in these patients with confirmed AD and no variations in the extent of A beta deposition, as either A beta(40) or A beta(42), in terms of plaque number or percentage area of tissue occupied, were found. We conclude that this intronic PS-1 polymorphism does not influence the pathological phenotype of AD, at least as far as A beta deposition is concerned. (C) 1997 Elsevier Science Ireland Ltd.

引用

页码：57 / 60

页数：4

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