The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer

Tao Chen, Jing He, Lijun Shen, Hezhi Fang, Hezhongrong Nie, Tao Jin, Xiaosong Wei, Yijuan Xin, Yulin Jiang, Hongzhi Li, Guorong Chen, Jianxin Lu, Yidong Bai

Research output: Contribution to journalArticlepeer-review

104 Scopus citations


Background: Qualitative and quantitative changes in human mitochondrial DNA (mtDNA) have been implicated in various cancer types. A 4,977 bp deletion in the major arch of the mitochondrial genome is one of the most common mutations associated with a variety of human diseases and aging.Methods: We conducted a comprehensive study on clinical features and mtDNA of 104 colorectal cancer patients in the Wenzhou area of China. In particular, using a quantitative real time PCR method, we analyzed the 4,977 bp deletion and mtDNA content in tumor tissues and paired non-tumor areas from these patients.Results: We found that the 4,977 bp deletion was more likely to be present in patients of younger age (≤65 years, p = 0.027). In patients with the 4,977 bp deletion, the deletion level decreased as the cancer stage advanced (p = 0.031). Moreover, mtDNA copy number in tumor tissues of patients with this deletion increased, both compared with that in adjacent non-tumor tissues and with in tumors of patients without the deletion. Such mtDNA content increase correlated with the levels of the 4,977 bp deletion and with cancer stage (p < 0.001).Conclusions: Our study indicates that the mtDNA 4,977 bp deletion may play a role in the early stage of colorectal cancer, and it is also implicated in alteration of mtDNA content in cancer cells.

Original languageEnglish (US)
Article number8
JournalBMC Medical Genetics
StatePublished - Jan 13 2011

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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