Hou XiaoTong, Jiang JingSi, Deng Min
Institute of Medical Innovation and Research, Peking University Third Hospital, No. 49, North Garden Road, HaiDian District, Beijing, China.
J Neurol. 2025 Apr 1;272(4):304. doi: 10.1007/s00415-025-13028-w.
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.
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。