Suppr超能文献

α-突触核蛋白种子扩增检测在突触核蛋白病诊断中的应用:临床实施中的创新工具。

α-Synuclein seeding amplification assays for diagnosing synucleinopathies: an innovative tool in clinical implementation.

机构信息

Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510120, China.

Houjie Hospital of Dongguan, Dongguan, 523000, China.

出版信息

Transl Neurodegener. 2024 Nov 21;13(1):56. doi: 10.1186/s40035-024-00449-2.

Abstract

The spectrum of synucleinopathies, including Parkinson's disease (PD), multiple system atrophy (MSA), and dementia with Lewy bodies (DLB), is characterized by α-synuclein (αSyn) pathology, which serves as the definitive diagnostic marker. However, current diagnostic methods primarily rely on motor symptoms that manifest years after the initial neuropathological changes, thereby delaying potential treatment. The symptomatic overlap between PD and MSA further complicates the diagnosis, highlighting the need for precise and differential diagnostic methods for these overlapping neurodegenerative diseases. αSyn misfolding and aggregation occur before clinical symptoms appear, suggesting that detection of pathological αSyn could enable early molecular diagnosis of synucleinopathies. Recent advances in seed amplification assay (SAA) offer a tool for detecting neurodegenerative diseases by identifying αSyn misfolding in fluid and tissue samples, even at preclinical stages. Extensive research has validated the effectiveness and reproducibility of SAAs for diagnosing synucleinopathies, with ongoing efforts focusing on optimizing conditions for detecting pathological αSyn in more accessible samples and identifying specific αSyn species to differentiate between various synucleinopathies. This review offers a thorough overview of SAA technology, exploring its applications for diagnosing synucleinopathies, addressing the current challenges, and outlining future directions for its clinical use.

摘要

包含帕金森病(PD)、多系统萎缩症(MSA)和路易体痴呆症(DLB)的突触核蛋白病谱的特征是α-突触核蛋白(αSyn)病理学,它是明确的诊断标志物。然而,目前的诊断方法主要依赖于运动症状,这些症状在最初的神经病理学变化发生多年后才会出现,从而延误了潜在的治疗时机。PD 和 MSA 之间的症状重叠进一步增加了诊断的难度,凸显了对这些重叠的神经退行性疾病进行精确和差异化诊断方法的必要性。αSyn 错误折叠和聚集发生在临床症状出现之前,这表明检测病理性 αSyn 可以实现突触核蛋白病的早期分子诊断。最近在种子扩增检测(SAA)方面的进展为通过在液体和组织样本中检测 αSyn 的错误折叠来识别神经退行性疾病提供了一种工具,甚至可以在临床前阶段进行检测。广泛的研究已经验证了 SAA 用于诊断突触核蛋白病的有效性和可重复性,目前正在努力优化检测更易获得的样本中病理性 αSyn 的条件,并识别特定的 αSyn 种类,以区分各种突触核蛋白病。这篇综述全面介绍了 SAA 技术,探讨了其在诊断突触核蛋白病中的应用,解决了当前的挑战,并概述了其临床应用的未来方向。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da42/11580393/b2ecab73c332/40035_2024_449_Fig1_HTML.jpg

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