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线粒体是细胞进行氧化磷酸化产生ATP的主要场所,在能量代谢、细胞凋亡、氧化应激等生命活动中扮演重要角色。近年来随着研究的不断深入,线粒体DNA(mtDNA)变异在恶性肿瘤发生及进展中的作用机制逐渐引起人们的广泛关注,成为肿瘤基础研究与临床研究领域的新兴热点。研究表明,肿瘤细胞中mtDNA变异包括点突变、缺失、插入以及拷贝数变异,并且这些变异可参与肿瘤细胞的增殖、生长、侵袭和转移。因此,进一步深入理解mtDNA变异的发生规律及作用机制,将为恶性肿瘤诊断、治疗及预后判断提供有意义的参考。
Mitochondria are the major sites where cells undergo oxidative phosphorylation to produce ATP and play an important role in life activities such as energy metabolism, apoptosis and oxidative stress. In recent years, with the deepening of research, the mechanism of mitochondrial DNA (mtDNA) mutation in the occurrence and progression of malignant tumors has aroused widespread concern and become a new hot spot in the field of basic research and clinical research. Studies have shown that mtDNA mutations in tumor cells include point mutations, deletions, insertions and copy number variations, and these mutations are involved in the proliferation, growth, invasion and metastasis of tumor cells. Therefore, further understanding of the regularity and mechanism of mtDNA variation will provide meaningful reference for the diagnosis, treatment and prognosis of malignant tumors.