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长非编码 RNA 与阿尔茨海默病:迈向个体化诊断。

Long Non-Coding RNAs and Alzheimer's Disease: Towards Personalized Diagnosis.

机构信息

Department of Medicine, Universidad del Norte, Barranquilla 081007, Colombia.

Instituto Colombiano de Neuropedagogía, Barranquilla 080020, Colombia.

出版信息

Int J Mol Sci. 2024 Jul 11;25(14):7641. doi: 10.3390/ijms25147641.

Abstract

Alzheimer's disease (AD), a neurodegenerative disorder characterized by progressive cognitive decline, is the most common form of dementia. Currently, there is no single test that can diagnose AD, especially in understudied populations and developing countries. Instead, diagnosis is based on a combination of medical history, physical examination, cognitive testing, and brain imaging. Exosomes are extracellular nanovesicles, primarily composed of RNA, that participate in physiological processes related to AD pathogenesis such as cell proliferation, immune response, and neuronal and cardiovascular function. However, the identification and understanding of the potential role of long non-coding RNAs (lncRNAs) in AD diagnosis remain largely unexplored. Here, we clinically, cognitively, and genetically characterized a sample of 15 individuals diagnosed with AD (cases) and 15 controls from Barranquilla, Colombia. Advanced bioinformatics, analytics and Machine Learning (ML) techniques were used to identify lncRNAs differentially expressed between cases and controls. The expression of 28,909 lncRNAs was quantified. Of these, 18 were found to be differentially expressed and harbored in pivotal genes related to AD. Two lncRNAs, ENST00000608936 and ENST00000433747, show promise as diagnostic markers for AD, with ML models achieving > 95% sensitivity, specificity, and accuracy in both the training and testing datasets. These findings suggest that the expression profiles of lncRNAs could significantly contribute to advancing personalized AD diagnosis in this community, offering promising avenues for early detection and follow-up.

摘要

阿尔茨海默病(AD)是一种以进行性认知衰退为特征的神经退行性疾病,是最常见的痴呆症类型。目前,没有单一的测试可以诊断 AD,特别是在研究较少的人群和发展中国家。相反,诊断是基于病史、体检、认知测试和脑成像的综合判断。外泌体是细胞外的纳米囊泡,主要由 RNA 组成,参与与 AD 发病机制相关的生理过程,如细胞增殖、免疫反应以及神经元和心血管功能。然而,长链非编码 RNA(lncRNA)在 AD 诊断中的潜在作用的识别和理解在很大程度上仍未得到探索。在这里,我们对来自哥伦比亚巴兰基亚的 15 名被诊断为 AD(病例)的个体和 15 名对照者进行了临床、认知和遗传特征分析。我们使用先进的生物信息学、分析和机器学习(ML)技术来识别病例和对照者之间差异表达的 lncRNA。定量分析了 28909 个 lncRNA 的表达水平。其中,有 18 个被发现存在差异表达,并与 AD 相关的关键基因有关。两个 lncRNA,ENST00000608936 和 ENST00000433747,作为 AD 的诊断标志物具有很大的潜力,ML 模型在训练和测试数据集中均实现了 >95%的敏感性、特异性和准确性。这些发现表明,lncRNA 的表达谱可能对推进该社区的 AD 个性化诊断有重要贡献,为早期检测和随访提供了有前景的途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2f2b/11277322/b88d755729fe/ijms-25-07641-g003.jpg

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