首页> 美国卫生研究院文献>Frontiers in Genetics >Do Copy Number Changes in CACNA2D2 CACNA2D3 and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease?

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Do Copy Number Changes in CACNA2D2 CACNA2D3 and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease?

机译：CACNA2D2CACNA2D3和CACNA1D中的拷贝数变化是否构成阿尔茨海默氏病的易感危险因素？

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Dysregulation of calcium (Ca²⁺) homeostasis is now being recognized to be a key step in the pathogenesis of Alzheimer’s disease (AD). Data from the literature, in particular the association between AD and polymorphism that interfere with Ca²⁺ homeostasis indicates the presence of genetic factors in this process; further, presenilins mutations, which are known to cause the familial form of AD, are involved in the regulation of intracellular Ca²⁺ stores. Here, we wish to draw attention to rare DNA copy number variations identified in two subjects with late-onset AD that led to partial or full duplication of genes that encode different subunits of the same type of voltage-gated Ca²⁺ channels; these duplications of voltage-gated Ca²⁺ channel genes is consistent with the critical role of calcium signaling in molecular processes underlying memory as has been demonstrated by several studies.

机译：钙（Ca ^{2 + ）动态平衡的失调现已被认为是阿尔茨海默氏病（AD）发病机理中的关键步骤。来自文献的数据，特别是AD与干扰Ca ^{2 + 体内稳态的多态性之间的关联，表明该过程中存在遗传因素。此外，早衰素突变（已知会导致AD的家族形式）参与细胞内Ca ^{2 + 储存的调控。在这里，我们希望引起人们的注意，这是在两名患有晚期AD的受试者中发现的罕见DNA拷贝数变异，这些变异导致部分或完全重复的基因编码相同类型的电压门控Ca 2+的不同亚基。 / sup>频道；电压门控的Ca ^{2 + 通道基因的这些重复与钙信号在潜在的记忆分子过程中的关键作用是一致的，一些研究已经证明了这一点。}}}}

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期刊名称 Frontiers in Genetics
作者
Darine Villela; Claudia K. Suemoto; Carlos A. Pasqualucci; Lea T. Grinberg; Carla Rosenberg;
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作者单位

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年(卷),期 2016(7),-1
年度 2016
页码 107
总页数 5
原文格式 PDF
正文语种
中图分类遗传学;
关键词
Alzheimer’s disease copy number variations CNVs array-CGH Casup2+/sup;

机译：阿尔茨海默氏病;拷贝数变异;CNV;阵列CGH;Ca sup 2 + / sup;

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1. Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease? [J] . Darine Villela, Claudia K. Suemoto, Carlos A. Pasqualucci, Frontiers in Genetics . 2016,第4期

机译： CACNA2D2 ， CACNA2D3 和 CACNA1D 的拷贝数变化是否构成阿尔茨海默氏病的诱因？
2. Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease? [J] . Darine Villela, Claudia K. Suemoto, Carlos A. Pasqualucci, Frontiers in Genetics . 2016,第1期

机译： CACNA2D2 ， CACNA2D3 和 CACNA1D 的拷贝数变化是否构成阿尔茨海默氏病的诱因？
3. Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease [J] . Boscher Emmanuelle, Husson Thomas, Quenez Olivier, Journal of Alzheimer's disease: JAD . 2019,第3期

机译：MIR-138中的拷贝数变体作为早期患者疾病的潜在风险因素
4. Analysis on Risk Factors of Women in Alzheimer’s Disease [C] . Xinlu Wang International Conference on Public Health and Data Science . 2020

机译：阿尔茨海默病妇女危险因素分析
5. The novel use of recombinant granulocyte-macrophage colony stimulating factor (GM-CSF) to reverse cerebral amyloidosis and cognitive impairment in Alzheimer's disease mouse models: Insights from the investigation of Rheumatoid arthritis as a negative risk factor for Alzheimer's disease [D] . Boyd, Timothy David 2010

机译：重组粒细胞巨噬细胞集落刺激因子（GM-CSF）在阿尔茨海默氏病小鼠模型中逆转脑淀粉样变性和认知障碍的新用途：类风湿关节炎作为阿尔茨海默氏病的阴性危险因素研究的启示
6. Interaction of homocysteine and conventional predisposing factors on risk of ischaemic stroke in young people: consistency in phenotype‐disease analysis and genotype‐disease analysis [O] . A Pezzini, M Grassi, E Del Zotto, 2006

机译：同型半胱氨酸与传统易感因素对年轻人缺血性中风风险的相互作用：表型-疾病分析和基因型-疾病分析的一致性
7. Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease? [O] . Darine Villela, Claudia K. Suemoto, Carlos A. Pasqualucci, 2016

机译：CaCNa2D2，CaCNa2D3和CaCNa1D中的拷贝数变化是否构成阿尔茨海默病的易感因素？

Do Copy Number Changes in CACNA2D2 CACNA2D3 and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease?

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