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探索表观遗传修饰作为肌萎缩侧索硬化症潜在的生物标志物和治疗靶点。

Exploring epigenetic modifications as potential biomarkers and therapeutic targets in amyotrophic lateral sclerosis.

作者信息

Hou XiaoTong, Jiang JingSi, Deng Min

机构信息

Institute of Medical Innovation and Research, Peking University Third Hospital, No. 49, North Garden Road, HaiDian District, Beijing, China.

出版信息

J Neurol. 2025 Apr 1;272(4):304. doi: 10.1007/s00415-025-13028-w.

DOI:10.1007/s00415-025-13028-w
PMID:40169452
Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and the most common motor neuron disease. Whole-genome sequencing has identified many novel ALS-associated genes, but genetics alone cannot fully explain the onset of ALS and an effective treatment is still lacking. Moreover, we need more biomarkers for accurate diagnosis and assessment of disease prognosis. Epigenetics, which includes DNA methylation and hydroxymethylation, histone modifications, chromatin remodeling, and non-coding RNAs, influences gene transcription and expression by affecting chromatin accessibility and transcription factor binding without altering genetic information. These processes play a role in the onset and progression of ALS. Epigenetic targets can serve as potential biomarkers and more importantly, the reversibility of epigenetic changes supports their potential role as versatile therapeutic targets in ALS. This review summarized the alterations in different epigenetic modulations in ALS. Additionally, given the close association between aberrant metabolic profiles characterized by hypoxia and high glycolytic metabolism in ALS and epigenetic changes, we also integrate epigenetics with metabolomics. Finally, we discuss the application of therapies based on epigenetic mechanisms in ALS. Our data integration helps to identify potential diagnostic and prognostic biomarkers and support the development of new effective therapies.

摘要

肌萎缩侧索硬化症(ALS)是一种神经退行性疾病,也是最常见的运动神经元疾病。全基因组测序已鉴定出许多与ALS相关的新基因,但仅遗传学无法完全解释ALS的发病机制,且仍缺乏有效的治疗方法。此外,我们需要更多生物标志物用于准确诊断和评估疾病预后。表观遗传学包括DNA甲基化和羟甲基化、组蛋白修饰、染色质重塑和非编码RNA,它通过影响染色质可及性和转录因子结合来影响基因转录和表达,而不改变遗传信息。这些过程在ALS的发病和进展中起作用。表观遗传靶点可作为潜在的生物标志物,更重要的是,表观遗传变化的可逆性支持了它们作为ALS通用治疗靶点的潜在作用。本综述总结了ALS中不同表观遗传调控的变化。此外,鉴于ALS中以缺氧和高糖酵解代谢为特征的异常代谢谱与表观遗传变化之间的密切关联,我们还将表观遗传学与代谢组学相结合。最后,我们讨论了基于表观遗传机制的疗法在ALS中的应用。我们的数据整合有助于识别潜在的诊断和预后生物标志物,并支持新的有效疗法的开发。

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Exploring epigenetic modifications as potential biomarkers and therapeutic targets in amyotrophic lateral sclerosis.探索表观遗传修饰作为肌萎缩侧索硬化症潜在的生物标志物和治疗靶点。
J Neurol. 2025 Apr 1;272(4):304. doi: 10.1007/s00415-025-13028-w.
2
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本文引用的文献

1
The impact of white matter hyperintensities on short-term outcomes of reperfusion therapy in patients with acute ischemic stroke.脑白质高信号对急性缺血性脑卒中患者再灌注治疗短期预后的影响。
J Neurol. 2024 Dec 18;272(1):81. doi: 10.1007/s00415-024-12755-w.
2
Epigenetic age acceleration is associated with occupational exposures, sex, and survival in amyotrophic lateral sclerosis.表观遗传年龄加速与肌萎缩侧索硬化症中的职业暴露、性别和生存有关。
EBioMedicine. 2024 Nov;109:105383. doi: 10.1016/j.ebiom.2024.105383. Epub 2024 Oct 5.
3
From Environment to Gene Expression: Epigenetic Methylations and One-Carbon Metabolism in Amyotrophic Lateral Sclerosis.
从环境到基因表达:肌萎缩侧索硬化症中的表观遗传甲基化和一碳代谢。
Cells. 2024 Jun 3;13(11):967. doi: 10.3390/cells13110967.
4
A model of human neural networks reveals NPTX2 pathology in ALS and FTLD.人类神经网络模型揭示 ALS 和额颞叶痴呆中的 NPTX2 病理学。
Nature. 2024 Feb;626(8001):1073-1083. doi: 10.1038/s41586-024-07042-7. Epub 2024 Feb 14.
5
Mitochondrial D-loop methylation levels inversely correlate with disease duration in amyotrophic lateral sclerosis.线粒体 D 环甲基化水平与肌萎缩侧索硬化症的疾病持续时间呈负相关。
Epigenomics. 2024 Feb;16(4):203-214. doi: 10.2217/epi-2023-0265. Epub 2024 Feb 5.
6
Fluid biomarkers for amyotrophic lateral sclerosis: a review.肌萎缩侧索硬化症的液体生物标志物:综述。
Mol Neurodegener. 2024 Jan 24;19(1):9. doi: 10.1186/s13024-023-00685-6.
7
The sense of antisense therapies in ALS.反义疗法在肌萎缩侧索硬化症中的意义。
Trends Mol Med. 2024 Mar;30(3):252-262. doi: 10.1016/j.molmed.2023.12.003. Epub 2024 Jan 11.
8
Screens in aging-relevant human ALS-motor neurons identify MAP4Ks as therapeutic targets for the disease.衰老相关的人类 ALS 运动神经元中的筛选结果表明 MAP4Ks 是该疾病的治疗靶点。
Cell Death Dis. 2024 Jan 4;15(1):4. doi: 10.1038/s41419-023-06395-7.
9
Elevated peripheral levels of receptor-interacting protein kinase 1 (RIPK1) and IL-8 as biomarkers of human amyotrophic lateral sclerosis.升高的受体相互作用蛋白激酶 1(RIPK1)和白细胞介素 8 外周水平作为人类肌萎缩侧索硬化症的生物标志物。
Signal Transduct Target Ther. 2023 Dec 13;8(1):451. doi: 10.1038/s41392-023-01713-z.
10
Role of Senataxin in Amyotrophic Lateral Sclerosis.Senataxin 在肌萎缩性侧索硬化症中的作用。
J Mol Neurosci. 2023 Dec;73(11-12):996-1009. doi: 10.1007/s12031-023-02169-0. Epub 2023 Nov 20.