Familial Alzheimer disease associated with A713T mutation in APP
Familial Alzheimer disease associated with A713T mutation in APP
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DOI：
10.1016/j.neulet.2004.08.026
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发表时间：
2004-11-11
影响因子：
2.5
通讯作者：
Ferrer, I
中科院分区：
文献类型：
--
作者：
Armstrong, J;Boada, M;Ferrer, I
APP基因突变与家族性早发性阿尔茨海默病(FAD)相关。对1例FAD患者进行基因组序列分析，发现APP基因第17轴突275329G>；A(GenBank登录号：D87675；GI：2429080)；2137G>；A(GenBank登录号：X06989；GI：28720)。这与APP中的A713T突变相对应。死后神经病理检查发现AD期为神经原纤维变性，Aβ-淀粉样蛋白负荷为C期。此前的研究表明，APP中的A713T突变是一种沉默突变或多态性。然而，我们没有在通过扩增-难治性突变系统(ARMS)分析的对照人群中发现APP的这种变化。结论：APP中A713T参与了AD的发病机制。由于免疫组织化学研究表明A713T突变不太可能与Aβ淀粉样蛋白的处理有关，这种罕见突变的致病作用仍有待证实。(C)2004爱思唯尔爱尔兰有限公司。保留所有权利。
Mutations in APP are associated with familial early-onset Alzheimer disease (FAD). Examination of the genomic sequence in one patient with FAD revealed a change located in the axon 17 of the APP gene at position 275329G>A (GenBank accession number: D87675; GI: 2429080); cDNA sequence 2137G>A (GenBank accession number: X06989; GI: 28720). This corresponds to the mutation A713T in APP. AD stage VI of neurofibrillary degeneration and stage C of Abeta-amyloid burden was found at the post-mortem neuropathological examination. Previous studies have suggested that the mutation A713T in APP is a silent mutation or polymorphism. However, we have not found this change in APP in a control population analyzed by the amplification-refractory mutation system (ARMS). It is concluded that A713T in APP is implicated in the pathogenesis of AD. Since the immunohistochemical study indicates that A713T mutation is not likely to relate with Abeta-amyloid processing, the causative role of this rare mutation remains to be warranted. (C) 2004 Elsevier Ireland Ltd. All rights reserved.