Ma Ya-Nan, Xia Ying, Karako Kenji, Song Peipei, Hu Xiqi
Department of Neurosurgery, Haikou Affiliated Hospital of Central South University Xiangya School of Medicine, Haikou, Hainan, China.
Department of Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Intractable Rare Dis Res. 2024 Nov 30;13(4):251-254. doi: 10.5582/irdr.2024.01058.
Extrachromosomal DNA (ecDNA) refers to a class of circular, non-chromosomal DNA that has recently gained widespread attention due to its potential role in aging and neurodegenerative diseases. The generation of ecDNA is closely associated with processes such as double-strand breaks, micronuclei formation, and the breakage-fusion-bridge (BFB) cycle, all of which are integral to regulation of gene expression, genetic stability, and clonal evolution. In neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and Huntington's disease, the aberrant formation of ecDNA is closely linked to defects in DNA repair, alterations in synaptic plasticity, and neuronal dysfunction. The distinct distribution and functional roles of ecDNA in these conditions make it a potential diagnostic biomarker and therapeutic target. This review provides an overview of the mechanisms underlying ecDNA formation and its functions in the nervous system. Additionally, it explores the clinical potential of ecDNA in disease diagnosis, targeted therapy, and personalized medicine, offering new insights for future research and treatment strategies.
染色体外DNA(ecDNA)是指一类环状的非染色体DNA,由于其在衰老和神经退行性疾病中的潜在作用,最近受到了广泛关注。ecDNA的产生与双链断裂、微核形成和断裂-融合-桥(BFB)循环等过程密切相关,所有这些过程对于基因表达调控、遗传稳定性和克隆进化都是不可或缺的。在阿尔茨海默病、帕金森病和亨廷顿病等神经退行性疾病中,ecDNA的异常形成与DNA修复缺陷、突触可塑性改变和神经元功能障碍密切相关。ecDNA在这些情况下的独特分布和功能作用使其成为一种潜在的诊断生物标志物和治疗靶点。本综述概述了ecDNA形成的机制及其在神经系统中的功能。此外,还探讨了ecDNA在疾病诊断、靶向治疗和个性化医学中的临床潜力,为未来的研究和治疗策略提供了新的见解。