Polymorphism in the BACE gene influences the risk for Alzheimer's disease

被引：28
作者：
Kirschling, CM [1 ]
Kölsch, H [1 ]
Frahnert, C [1 ]
Rao, ML [1 ]
Maier, W [1 ]
Heun, R [1 ]
机构：
[1] Univ Bonn, Dept Psychiat, D-53105 Bonn, Germany
来源：
NEUROREPORT | 2003年 / 14卷 / 09期
关键词：
Alzheimer's disease; beta-amyloid; ApoE4; APP; BACE; CSF; polymorphism; beta-secretase;
D O I：
10.1097/00001756-200307010-00011
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
Pathological characteristics of Alzheimer's disease (AD) are neurofibrillary tangles and amyloid-beta (Abeta) plaques. Abeta is generated by cleavage of the amyloid precursor protein by beta- and gamma-secretases. BACE (beta-site APP cleaving enzyme) was identified as the beta-secretase. Variations of the BACE gene might influence activity and function of the protein and, thus, might influence the pathogenesis of AD. Consequently, we investigated the association of different BACE polymorphisms with AD. BACE exon 5 polymorphism influenced the risk of AD. This effect was most pronounced in apolipoprotein E4 allele carriers. Furthermore, Abeta(42) CSF levels were influenced by BACE genotype. It appears that BACE polymorphism plays a more important role in the development of AD than previously assumed, possibly by influencing Abeta(42) levels.
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收藏
页码：1243 / 1246
页数：4
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