The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease
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DOI：
10.1002/ana.410440617
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发表时间：
1998-12-01
影响因子：
11.2
通讯作者：
Lannfelt, L
中科院分区：
文献类型：
--
作者：
Mattila, KM;Forsell, C;Lannfelt, L
在早发性家族性阿尔茨海默病（AD）中，已发现淀粉样前体蛋白（APP）基因和早老素（PS）-1和PS-2基因中存在致病性突变。我们在20例来自芬兰人群的家族性AD患者中筛选这些基因的突变。此外，我们对41例散发性AD患者和59例对照进行了抽样，以检测在我们的家族性AD病例中发现的突变。我们在2例家族性和2例散发性AD患者中检测到PS-1基因的A → G转换，导致密码子318处的谷氨酸（Glu）→甘氨酸（Gly）取代。Glu 318 Gly突变先前已被报道导致AD。在4例健康老年人（年龄74-87岁）中也发现了Glu 318 Gly突变。因此，我们得出结论，该突变很可能是一种罕见的多态性不相关的AD。
In early-onset familial Alzheimer's disease (AD) pathogenic mutations have been found in the amyloid precursor protein (APP) gene and in the presenilin (PS)-1 and PS-2 genes. We screened for mutations in these genes in 20 patients with familial AD from the Finnish population. In addition, we sampled 41 sporadic AD patients and 59 controls to test for mutations identified in our familial AD cases. We detected an A-to-G transition in the PS-1 gene, resulting in a glutamic acid (Glu)-to-glycine (Gly) substitution at codon 318 in 2 familial and 2 sporadic AD patients. The Glu318Gly mutation has previously been reported to cause AD. We also found the Glu318Gly mutation in 4 healthy aged controls (range, 74-87 years). We thus conclude that the mutation is most likely a rare polymorphism not related to AD.