Suppr超能文献

阿尔茨海默病的新型易感基因座。

Novel susceptibility loci for Alzheimer's disease.

作者信息

Reitz Christiane

出版信息

Future Neurol. 2015 Dec;10(6):547-558. doi: 10.2217/fnl.15.42.

Abstract

Late-onset Alzheimer's disease (AD), a highly prevalent neurodegenerative disorder characterized by progressive deterioration in cognition, function and behavior terminating in incapacity and death, is a clinically and pathologically heterogeneous disease with a substantial heritable component. During the past 5 years, the technological developments in next-generation high-throughput genome technologies have led to the identification of more than 20 novel susceptibility loci for AD, and have implicated specific pathways in the disease, in particular intracellular trafficking/endocytosis, inflammation and immune response and lipid metabolism. These observations have significantly advanced our understanding of underlying pathogenic mechanisms and potential therapeutic targets. This review article summarizes these recent advances in AD genomics and discusses the value of identified susceptibility loci for diagnosis and prognosis of AD.

摘要

晚发型阿尔茨海默病(AD)是一种高度流行的神经退行性疾病,其特征是认知、功能和行为逐渐恶化,最终导致失能和死亡。它是一种临床和病理上异质性的疾病,具有显著的遗传成分。在过去5年中,下一代高通量基因组技术的发展已导致鉴定出20多个新的AD易感基因座,并揭示了该疾病中的特定途径,特别是细胞内运输/内吞作用、炎症和免疫反应以及脂质代谢。这些发现显著推进了我们对潜在致病机制和潜在治疗靶点的理解。这篇综述文章总结了AD基因组学的这些最新进展,并讨论了已鉴定的易感基因座对AD诊断和预后的价值。

相似文献

3
Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.阿尔茨海默病的基因诊断与预后:挑战与机遇
Expert Rev Mol Diagn. 2015 Mar;15(3):339-48. doi: 10.1586/14737159.2015.1002469. Epub 2015 Jan 29.
6
Genetic discoveries and advances in late-onset Alzheimer's disease.迟发性阿尔茨海默病的遗传发现和进展。
J Cell Physiol. 2019 Aug;234(10):16873-16884. doi: 10.1002/jcp.28372. Epub 2019 Feb 20.
7
Unraveling the genes implicated in Alzheimer's disease.揭示与阿尔茨海默病相关的基因。
Biomed Rep. 2017 Aug;7(2):105-114. doi: 10.3892/br.2017.927. Epub 2017 Jun 14.
8
State of Play in Alzheimer's Disease Genetics.阿尔茨海默病遗传学的现状
J Alzheimers Dis. 2017;58(3):631-659. doi: 10.3233/JAD-170062.
9
Genetics of Alzheimer's disease: a centennial review.阿尔茨海默病的遗传学:百年回顾
Neurol Clin. 2007 Aug;25(3):611-67, v. doi: 10.1016/j.ncl.2007.03.009.
10
Genetic Markers of Alzheimer's Disease.阿尔茨海默病的遗传标志物。
Adv Exp Med Biol. 2019;1192:27-52. doi: 10.1007/978-981-32-9721-0_3.

引用本文的文献

本文引用的文献

7
PLD3 gene variants and Alzheimer's disease.磷脂酶D3基因变异与阿尔茨海默病。
Nature. 2015 Apr 2;520(7545):E7-8. doi: 10.1038/nature14040.
8
PLD3 in non-familial Alzheimer's disease.磷脂酶D3与非家族性阿尔茨海默病
Nature. 2015 Apr 2;520(7545):E3-5. doi: 10.1038/nature14039.
9
PLD3 variants in population studies.群体研究中的PLD3变异体
Nature. 2015 Apr 2;520(7545):E2-3. doi: 10.1038/nature14038.
10

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验