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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F25%3A00644120" target="_blank" >RIV/68378041:_____/25:00644120 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/86652036:_____/25:00644120 RIV/00216208:11110/25:10505471 RIV/00216208:11130/25:10505471 RIV/00216208:11140/25:10505471 a 4 dalších

Výsledek na webu

<a href="https://link.springer.com/article/10.1186/s10020-025-01400-5" target="_blank" >https://link.springer.com/article/10.1186/s10020-025-01400-5</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s10020-025-01400-5" target="_blank" >10.1186/s10020-025-01400-5</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

BackgroundWhile 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).MethodsThis 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.ResultsOur 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.ConclusionsTo conclude, this study highlights the importance of mtDNA alterations in CC development and identifies potential mtDNA biomarkers.

Název v anglickém jazyce

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

Popis výsledku anglicky

BackgroundWhile 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).MethodsThis 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.ResultsOur 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.ConclusionsTo conclude, this study highlights the importance of mtDNA alterations in CC development and identifies potential mtDNA biomarkers.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30204 - Oncology

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Molecular Medicine

ISSN

1076-1551

e-ISSN

1528-3658

Svazek periodika

31

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

14

Strana od-do

341

Kód UT WoS článku

001650875500001

EID výsledku v databázi Scopus

2-s2.0-105026406251