Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.
Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.
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阿尔茨海默病：从遗传变异到独特的病理机制
DOI：
10.3389/fnmol.2017.00319
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发表时间：
2017
影响因子：
4.8
通讯作者：
Shen Y
中科院分区：
文献类型：
--
作者：
Sun Q;Xie N;Tang B;Li R;Shen Y
AD是一种多基因遗传的神经退行性疾病，是痴呆的最常见病因。其发病机制复杂多样，遗传因素在其中起着不可或缺的作用。发现与AD发病机制相关的潜在基因将有助于深入了解AD的神经退行性变，从而进一步推动AD的分子诊断。根据发病年龄，AD可分为早发性AD（EOAD）和晚发性AD（LOAD）。EOAD和LOAD的遗传学研究进展被认为不仅是传统观念的革命，而且是揭示AD发病机制的新的病理机制。目前，尽管与EOAD相比，由于其复杂和多因素的本质，LOAD的遗传学知之甚少，但全基因组关联研究（GWAS）和下一代测序（NGS）方法已经确定了数十个新基因，这些基因可能提供LOAD的机制。本文对这些基因的功能进行了分析，并对这些基因参与AD发病的不同病理机制进行了总结。
Being the most common cause of dementia, AD is a polygenic and neurodegenerative disease. Complex and multiple factors have been shown to be involved in its pathogenesis, of which the genetics play an indispensable role. It is widely accepted that discovery of potential genes related to the pathogenesis of AD would be of great help for the understanding of neurodegeneration and thus further promote molecular diagnosis in clinic settings. Generally, AD could be clarified into two types according to the onset age, the early-onset AD (EOAD) and the late-onset AD (LOAD). Progresses made by genetic studies on both EOAD and LOAD are believed to be essential not only for the revolution of conventional ideas but also for the revelation of new pathological mechanisms underlying AD pathogenesis. Currently, albeit the genetics of LOAD is much less well-understood compared to EOAD due to its complicated and multifactorial essence, Genome-wide association studies (GWASs) and next generation sequencing (NGS) approaches have identified dozens of novel genes that may provide insight mechanism of LOAD. In this review, we analyze functions of the genes and summarize the distinct pathological mechanisms of how these genes would be involved in the pathogenesis of AD.
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影响因子：
3.7
作者：
Cruchaga C;Haller G;Chakraverty S;Mayo K;Vallania FL;Mitra RD;Faber K;Williamson J;Bird T;Diaz-Arrastia R;Foroud TM;Boeve BF;Graff-Radford NR;St Jean P;Lawson M;Ehm MG;Mayeux R;Goate AM;NIA-LOAD/NCRAD Family Study Consortium
通讯作者：
NIA-LOAD/NCRAD Family Study Consortium
DOI：
10.1073/pnas.93.10.4804
发表时间：
1996-05-14
影响因子：
11.1
作者：
Dreyling, MH;MartinezCliment, JA;Bohlander, SK
通讯作者：
Bohlander, SK
DOI：
10.1073/pnas.0503689102
发表时间：
2005-09-20
影响因子：
11.1
作者：
Andersen, OM;Reiche, J;Willnow, TE
通讯作者：
Willnow, TE
影响因子：
12.7
作者：
Ando, Kunie;Brion, Jean-Pierre;Duyckaerts, Charles
通讯作者：
Duyckaerts, Charles
影响因子：
--
作者：
Biffi, Alessandro;Anderson, Christopher D.;Desikan, Rahul S.;Sabuncu, Mert;Cortellini, Lynelle;Schmansky, Nick;Salat, David;Rosand, Jonathan
通讯作者：
Rosand, Jonathan