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神经退行性疾病中的表观遗传失调:对神经病理学和治疗的影响

Epigenetic Dysregulation in Neurodegenerative Disease: Implications for Neuropathology and Therapy.

作者信息

Qasim Hussein, Khattab Karis, Abu Shugaer Mohammad, Varrassi Giustino

机构信息

Pathology and Laboratory Medicine, Jordan University of Science and Technology, Irbid, JOR.

Pathology and Laboratory Medicine, Faculty of Medicine, Yarmouk University, Irbid, JOR.

出版信息

Cureus. 2025 Aug 15;17(8):e90188. doi: 10.7759/cureus.90188. eCollection 2025 Aug.

Abstract

Neurodegenerative diseases (NDDs) such as Alzheimer's disease (AD), Parkinson's disease (PD), and Huntington's disease (HD) are characterized by progressive neuronal dysfunction, yet their underlying mechanisms remain incompletely understood. Emerging evidence implicates epigenetic dysregulation as a central contributor to the pathogenesis of these disorders. A thematic literature review was conducted across major databases using targeted search terms related to epigenetics and neurodegeneration. Studies were selected based on relevance, methodological quality, and contribution to mechanistic understanding, in accordance with Scale for the Assessment of Narrative Review Articles (SANRA) guidelines. Across AD, PD, and HD, distinct yet overlapping patterns of epigenetic alterations were identified. In AD, dysregulated DNA methylation and histone acetylation affect genes linked to amyloid and tau pathology. In PD, hypomethylation of SNCA and altered histone acetylation contribute to α-synuclein overexpression and neuronal loss. In HD, mutant huntingtin protein disrupts chromatin remodeling by sequestering histone acetyltransferases and altering microRNA expression. These changes disrupt neuronal identity, synaptic function, and inflammatory responses, often forming feedback loops that exacerbate disease progression. Epigenetic mechanisms play a pivotal role in neurodegeneration by mediating gene-environment interactions and perpetuating neuropathological changes. Their reversible nature presents opportunities for therapeutic intervention, though challenges related to specificity, delivery, and timing remain. Continued research into epigenetic biomarkers and precision-targeted epigenetic therapies holds promise for advancing early diagnosis and disease modification in NDDs.

摘要

神经退行性疾病(NDDs),如阿尔茨海默病(AD)、帕金森病(PD)和亨廷顿舞蹈病(HD),其特征是神经元功能进行性失调,但其潜在机制仍未完全明确。新出现的证据表明,表观遗传失调是这些疾病发病机制的核心因素。我们使用与表观遗传学和神经退行性变相关的靶向检索词,在各大数据库中进行了专题文献综述。根据叙述性综述文章评估量表(SANRA)指南,基于相关性、方法学质量和对机制理解的贡献来选择研究。在AD、PD和HD中,我们识别出了不同但有重叠的表观遗传改变模式。在AD中,DNA甲基化失调和组蛋白乙酰化影响与淀粉样蛋白和tau病理相关的基因。在PD中,SNCA的低甲基化和组蛋白乙酰化改变导致α-突触核蛋白过表达和神经元丢失。在HD中,突变的亨廷顿蛋白通过隔离组蛋白乙酰转移酶和改变微小RNA表达来破坏染色质重塑。这些变化破坏了神经元特性、突触功能和炎症反应,常常形成反馈回路,加剧疾病进展。表观遗传机制通过介导基因-环境相互作用和使神经病理变化持续存在,在神经退行性变中起关键作用。尽管在特异性、递送和时机方面仍存在挑战,但其可逆性为治疗干预提供了机会。对表观遗传生物标志物和精准靶向表观遗传疗法的持续研究有望推动NDDs的早期诊断和疾病改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c07c/12433725/b95e8658ec6d/cureus-0017-00000090188-i01.jpg

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