染色体外环状DNA：癌症进展和年龄相关疾病中的双刃剑。

Extrachromosomal circular DNA: a double-edged sword in cancer progression and age-related diseases.

作者信息

Irdianto Shadira Anindieta, Dwiranti Astari, Bowolaksono Anom

机构信息

Cellular and Molecular Mechanisms in Biological System (CEMBIOS) Research Group, Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Indonesia, Depok, 16424, Indonesia.

Institute for Advanced Sustainable Materials Research and Technology (INA-SMART), Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, 16424, Indonesia.

出版信息

Hum Cell. 2025 Feb 19;38(2):58. doi: 10.1007/s13577-025-01178-y.

DOI:10.1007/s13577-025-01178-y

PMID:39969664

Abstract

Extrachromosomal circular DNA (eccDNA) is a fascinating form of genetic material found outside the usual chromosomal DNA in eukaryotic cells, including humans. Since its discovery in the 1960s, eccDNA has been linked to critical roles in cancer progression and age-related diseases. This review thoroughly explores eccDNA, covering its types, how it forms, and its significant impact on diseases, particularly cancer. EccDNA, especially in its extrachromosomal DNA (ecDNA) form, contributes to the genetic diversity of tumour cells, helping them evolve quickly and resist treatments. Beyond cancer, eccDNA is also connected to age-related conditions like Werner syndrome, amyotrophic lateral sclerosis (ALS), and type 2 diabetes mellitus (T2DM), where it may affect genomic stability and disease development. The potential of eccDNA as a biomarker for predicting disease outcomes and as a target for new treatments is also highlighted. This review aims to deepen our understanding of eccDNA and inspire further research into its roles in human health and disease, paving the way for innovative diagnostic and therapeutic approaches.

摘要

染色体外环状DNA（eccDNA）是一种在包括人类在内的真核细胞中，存在于常规染色体DNA之外的、引人关注的遗传物质形式。自20世纪60年代被发现以来，eccDNA已被证明在癌症进展和与年龄相关的疾病中发挥关键作用。本综述全面探讨了eccDNA，涵盖其类型、形成方式及其对疾病（尤其是癌症）的重大影响。EccDNA，特别是其染色体外DNA（ecDNA）形式，有助于肿瘤细胞的遗传多样性，使它们能够快速进化并抵抗治疗。除了癌症，eccDNA还与诸如沃纳综合征、肌萎缩侧索硬化症（ALS）和2型糖尿病（T2DM）等与年龄相关的病症有关，在这些病症中它可能影响基因组稳定性和疾病发展。还强调了eccDNA作为预测疾病结果的生物标志物以及作为新治疗靶点的潜力。本综述旨在加深我们对eccDNA的理解，并激发对其在人类健康和疾病中的作用的进一步研究，为创新的诊断和治疗方法铺平道路。