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Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines
Published on: March 17, 2023
High incidence of coding gene mutations in mitochondrial DNA in esophageal cancer
Zong-Wen Liu1, Zhen-Jiang Guo1, A-Lan Chu1
1Department of Radiotherapy, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450014, P.R. China.
Abstract:
The aim of the present study was to detect mutations in the coding genes of mitochondrial DNA (mtDNA) in three esophageal cancer cell lines and in tumor tissues obtained from 30 patients with esophageal cancer, to investigate the relationship between protein‑ and RNA‑coding gene mutations and esophageal cancer. mtDNA was extracted and the coding genes were sequenced and analyzed by comparing the sequencing results with the complete mitochondrial genome of Homo sapiens. The results revealed 39 mutations in the three esophageal cancer cell lines; the genes with the highest mutation frequencies included mitochondrially encoded cytochrome B (MT‑CYTB), NADH dehydrogenase 5 (MT‑ND5) and MT‑ND4 gene. A total of 216 mutations were identified in the 30 esophageal cancer tissues, including 182 protein‑coding mutations, of which MT‑CYTB and MT‑ND5 genes exhibited higher mutation frequencies. The results of the present study indicated that mutations in the coding genes of mtDNA in esophageal cancer cells may be related to the occurrence of esophageal cancer.
Insights
Mitochondrial DNA (mtDNA) mutations in esophageal cancer cell lines and patient tissues were identified. Specific genes like MT-CYTB and MT-ND5 showed high mutation frequencies, suggesting a link to esophageal cancer development.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Esophageal cancer is a significant global health concern.
- Mitochondrial DNA (mtDNA) plays a crucial role in cellular energy production and its mutations have been implicated in various cancers.
- Understanding mtDNA alterations in esophageal cancer may reveal novel diagnostic or therapeutic targets.
Purpose of the Study:
- To detect mutations in mitochondrial DNA (mtDNA) coding genes.
- To investigate the relationship between these mutations and esophageal cancer.
- To analyze mutation frequencies in esophageal cancer cell lines and tumor tissues.
Main Methods:
- Extraction of mtDNA from three esophageal cancer cell lines and 30 patient tumor tissues.
- Sequencing of mtDNA coding genes.
- Comparative analysis of sequencing results against the Homo sapiens mitochondrial genome.
Main Results:
- 39 mutations were detected in esophageal cancer cell lines, with MT-CYTB, MT-ND5, and MT-ND4 genes showing the highest frequencies.
- A total of 216 mutations were identified in tumor tissues, including 182 protein-coding mutations.
- MT-CYTB and MT-ND5 genes exhibited higher mutation frequencies in tumor tissues.
Conclusions:
- Mutations in mtDNA coding genes are prevalent in esophageal cancer.
- Specific genes, including MT-CYTB and MT-ND5, are frequently mutated in esophageal cancer.
- These findings suggest a potential role for mtDNA mutations in the pathogenesis of esophageal cancer.
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