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遗传因素在探讨阿尔茨海默病与原发性开角型青光眼之间可能联系中的作用。

Genetic Factors Implicated in the Investigation of Possible Connections between Alzheimer's Disease and Primary Open Angle Glaucoma.

机构信息

Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

出版信息

Genes (Basel). 2023 Jan 28;14(2):338. doi: 10.3390/genes14020338.

DOI:10.3390/genes14020338
PMID:36833265
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9957421/
Abstract

Both Alzheimer's disease (AD) and primary open angle glaucoma (POAG) are diseases of primary global neurodegeneration with complex pathophysiologies. Throughout the published literature, researchers have highlighted similarities associated with various aspects of both diseases. In light of the increasing number of findings reporting resemblance between the two neurodegenerative processes, scientists have grown interested in possible underlying connections between AD and POAG. In the search for explanations to fundamental mechanisms, a multitude of genes have been studied in each condition, with overlap in the genes of interest between AD and POAG. Greater understanding of genetic factors can drive the research process of identifying relationships and elucidating common pathways of disease. These connections can then be utilized to advance research as well as to generate new clinical applications. Notably, AD and glaucoma are currently diseases with irreversible consequences that often lack effective therapies. An established genetic connection between AD and POAG would serve as the basis for development of gene or pathway targeted strategies relevant to both diseases. Such a clinical application could be of immense benefit to researchers, clinicians, and patients alike. This paper aims to summarize the genetic associations between AD and POAG, describe common underlying mechanisms, discuss potential areas of application, and organize the findings in a review.

摘要

阿尔茨海默病 (AD) 和原发性开角型青光眼 (POAG) 都是原发性全球神经退行性疾病,具有复杂的病理生理学。在已发表的文献中,研究人员强调了与两种疾病各个方面相关的相似之处。鉴于越来越多的研究报告表明这两种神经退行性过程之间存在相似性,科学家们对 AD 和 POAG 之间可能存在的潜在联系产生了兴趣。在寻找基本机制解释的过程中,许多基因在每种情况下都得到了研究,AD 和 POAG 之间存在感兴趣基因的重叠。对遗传因素的更多了解可以推动研究过程,以确定关系和阐明疾病的共同途径。然后可以利用这些联系来推进研究并产生新的临床应用。值得注意的是,AD 和青光眼目前都是后果不可逆转的疾病,往往缺乏有效的治疗方法。AD 和 POAG 之间已确立的遗传联系将为开发与两种疾病相关的基因或途径靶向策略提供基础。这样的临床应用对研究人员、临床医生和患者都将有巨大的好处。本文旨在总结 AD 和 POAG 之间的遗传关联,描述共同的潜在机制,讨论潜在的应用领域,并在综述中组织研究结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac2e/9957421/bbdec60970db/genes-14-00338-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac2e/9957421/bbdec60970db/genes-14-00338-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac2e/9957421/bbdec60970db/genes-14-00338-g001.jpg

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Common Variants rs429358 and rs7412 in Gene Are Not Associated with POAG in a Saudi Cohort.

本文引用的文献

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J Clin Med. 2022 Nov 12;11(22):6702. doi: 10.3390/jcm11226702.
2
Shared genetic architecture between the two neurodegenerative diseases: Alzheimer's disease and glaucoma.两种神经退行性疾病——阿尔茨海默病和青光眼之间的共同遗传结构。
Front Aging Neurosci. 2022 Sep 1;14:880576. doi: 10.3389/fnagi.2022.880576. eCollection 2022.
3
Apolipoprotein E4 impairs the response of neurodegenerative retinal microglia and prevents neuronal loss in glaucoma.
基因中的常见变异体rs429358和rs7412与沙特人群中的原发性开角型青光眼无关。
Biology (Basel). 2024 Jan 22;13(1):62. doi: 10.3390/biology13010062.
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MRI and Clinical Biomarkers Overlap between Glaucoma and Alzheimer's Disease.MRI 和临床生物标志物在青光眼和阿尔茨海默病之间存在重叠。
Int J Mol Sci. 2023 Oct 5;24(19):14932. doi: 10.3390/ijms241914932.
载脂蛋白 E4 损害神经退行性视网膜小胶质细胞的反应并防止青光眼的神经元丢失。
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New insights into the genetic etiology of Alzheimer's disease and related dementias.阿尔茨海默病及相关痴呆症的遗传学病因新见解。
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