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阿尔茨海默病和其他神经退行性疾病中不存在 A673T 淀粉样前体蛋白变异体。

Absence of A673T amyloid-β precursor protein variant in Alzheimer's disease and other neurological diseases.

机构信息

Department of Neurology, Singapore General Hospital, Singapore; National Neuroscience Institute, Singapore, Singapore.

出版信息

Neurobiol Aging. 2013 Oct;34(10):2441.e7-8. doi: 10.1016/j.neurobiolaging.2013.04.012. Epub 2013 May 4.

DOI:10.1016/j.neurobiolaging.2013.04.012
PMID:23652020
Abstract

The rare variant A673T in the amyloid-β precursor protein (APP) gene has been shown to reduce the risk of cognitive impairment. We genotyped the variant in 8721 Asian individuals comprising 552 with Alzheimer's disease and vascular dementia, 790 with Parkinson's disease, and 7379 controls. The A673T variant was absent in all of the subjects. Our finding suggests that the A673T protective variant is not relevant in our Asian population. Studies in other ethnic populations would clarify whether this variant is specific to specific races/ethnicities.

摘要

在淀粉样前体蛋白(APP)基因中罕见的 A673T 变异已被证明可降低认知障碍的风险。我们对包括 552 名阿尔茨海默病和血管性痴呆患者、790 名帕金森病患者和 7379 名对照者在内的 8721 名亚洲个体进行了该变异的基因分型。在所有受试者中均未发现 A673T 变异。我们的发现表明,A673T 保护性变异在我们的亚洲人群中并不相关。在其他种族人群中的研究将阐明该变异是否仅存在于特定种族/民族中。

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引用本文的文献

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Exploring the Involvement of the Amyloid Precursor Protein A673T Mutation against Amyloid Pathology and Alzheimer's Disease in Relation to Therapeutic Editing Tools.探索淀粉样前体蛋白A673T突变与淀粉样病理及阿尔茨海默病的关系以及相关治疗编辑工具的作用。
Pharmaceutics. 2022 Jun 15;14(6):1270. doi: 10.3390/pharmaceutics14061270.
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Genetics of Alzheimer's disease.阿尔茨海默病的遗传学。
Wien Med Wochenschr. 2021 Sep;171(11-12):249-256. doi: 10.1007/s10354-021-00819-9. Epub 2021 Feb 22.
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Dysregulation of Neuronal Iron Homeostasis as an Alternative Unifying Effect of Mutations Causing Familial Alzheimer's Disease.
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Front Neurosci. 2018 Aug 13;12:533. doi: 10.3389/fnins.2018.00533. eCollection 2018.
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Generation of App knock-in mice reveals deletion mutations protective against Alzheimer's disease-like pathology.生成 App 敲入小鼠揭示了对阿尔茨海默病样病理有保护作用的缺失突变。
Nat Commun. 2018 May 4;9(1):1800. doi: 10.1038/s41467-018-04238-0.
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Genes associated with Alzheimer's disease: an overview and current status.与阿尔茨海默病相关的基因:概述与现状
Clin Interv Aging. 2016 May 17;11:665-81. doi: 10.2147/CIA.S105769. eCollection 2016.
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