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Background <p>While nuclear DNA (nDNA) damage and alterations in nDNA repair are known to play a role in colon cancer (CC), there is insufficient research investigating these processes in mitochondrial DNA (mtDNA).</p> Methods <p>This study investigates mtDNA changes in CC, focusing on mitochondrial DNA copy number (mtDNA-CN) variations, mtDNA damage, and the expression and mutation status of DNA repair genes. Three cohorts were analyzed: healthy controls, colon adenoma patients, and CC patients, divided into a pilot and a validation set.</p> Results <p>Our findings revealed that mtDNA-CN was elevated in colon adenomas compared to adenoma-adjacent mucosa (FDR = 0.04), healthy mucosa (FDR = 0.005), and tumor-adjacent mucosa (FDR = 0.005). Moreover, mtDNA-CN was elevated in adenoma-adjacent mucosa compared to healthy mucosa (FDR = 0.04). MtDNA damage was greater in tumor-adjacent mucosa compared to tumor tissue in both the pilot and validation sets (FDR = 0.031 and FDR = 2.06e-05, respectively). Additionally, we identified novel DNA repair genes associated with mtDNA damage, predominantly upregulated in adenoma and tumor tissues compared to healthy colon tissues.</p> Conclusions <p>To conclude, this study highlights the importance of mtDNA alterations in CC development and identifies potential mtDNA biomarkers.</p>

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Dysregulated mitochondrial homeostasis and DNA repair in the progression from colon adenoma to cancer

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月22日

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  • Natalie Danesova,
  • Josef Horak,
  • Anna Valickova,
  • Adrian Gil-Korilis,
  • Jorge Ergui-Arbizu,
  • Richard Palek,
  • Jan Bruha,
  • Miroslav Levy,
  • Pavel Skrobanek,
  • Jan Kral,
  • Jiri Jungwirth,
  • Jiri Neuzil,
  • Veronika Vymetalkova,
  • Pavel Vodicka,
  • Sona Vodenkova,
  • Kristyna Tomasova

摘要

Background

While nuclear DNA (nDNA) damage and alterations in nDNA repair are known to play a role in colon cancer (CC), there is insufficient research investigating these processes in mitochondrial DNA (mtDNA).

Methods

This study investigates mtDNA changes in CC, focusing on mitochondrial DNA copy number (mtDNA-CN) variations, mtDNA damage, and the expression and mutation status of DNA repair genes. Three cohorts were analyzed: healthy controls, colon adenoma patients, and CC patients, divided into a pilot and a validation set.

Results

Our findings revealed that mtDNA-CN was elevated in colon adenomas compared to adenoma-adjacent mucosa (FDR = 0.04), healthy mucosa (FDR = 0.005), and tumor-adjacent mucosa (FDR = 0.005). Moreover, mtDNA-CN was elevated in adenoma-adjacent mucosa compared to healthy mucosa (FDR = 0.04). MtDNA damage was greater in tumor-adjacent mucosa compared to tumor tissue in both the pilot and validation sets (FDR = 0.031 and FDR = 2.06e-05, respectively). Additionally, we identified novel DNA repair genes associated with mtDNA damage, predominantly upregulated in adenoma and tumor tissues compared to healthy colon tissues.

Conclusions

To conclude, this study highlights the importance of mtDNA alterations in CC development and identifies potential mtDNA biomarkers.