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Updated: Feb 24, 2026

Culture of Bladder Cancer Organoids as Precision Medicine Tools
Published on: December 28, 2021
Mitochondrial dysfunctions in bladder cancer: Exploring their role as disease markers and potential therapeutic
Antonella Cormio1, Francesca Sanguedolce2, Clara Musicco3
1Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy.
Abstract:
Bladder cancer (BC) is a major cause of mortality worldwide as it currently lacks fully reliable markers of disease outcome and effective molecular targets for therapy. Mitochondria play a key role in cell metabolism but the role of mitochondrial dysfunctions in BC has been scarcely investigated. In this review, we explored current evidence for the potential role of mitochondrial DNA (mtDNA) alterations (point mutations and copy number) as disease markers in BC. Some germline mtDNA mutations detectable in blood could represent a non-invasive tool to predict the risk of developing BC. MtDNA copy number and tumor specific mtDNA mutations and RNAs showed encouraging results as novel molecular markers for early detection of BC in body fluids. Moreover, mitochondrial proteins Lon protease, Mitofusin-2, and TFAM may have prognostic/predictive value and may represent potential therapeutic targets. A deeper understanding of mitochondrial dysfunctions in BC could therefore provide novel opportunities for targeted therapeutic strategies.
Insights
Mitochondrial DNA alterations show promise as non-invasive biomarkers for bladder cancer (BC) risk prediction and early detection. Specific mitochondrial proteins may also serve as prognostic indicators and therapeutic targets for BC.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Bladder cancer (BC) poses a significant global health challenge due to limited reliable outcome markers and therapeutic targets.
- Mitochondrial dysfunction's role in BC remains underexplored despite mitochondria's critical function in cellular metabolism.
Purpose of the Study:
- To review current evidence on mitochondrial DNA (mtDNA) alterations as potential biomarkers for bladder cancer.
- To explore the prognostic and therapeutic potential of mitochondrial proteins in BC.
Main Methods:
- Systematic review of existing literature on mtDNA alterations (point mutations, copy number) in BC.
- Analysis of studies investigating germline and somatic mtDNA mutations, mtDNA copy number, and specific mitochondrial proteins (Lon protease, Mitofusin-2, TFAM) in relation to BC.
Main Results:
- Germline mtDNA mutations in blood may predict BC risk non-invasively.
- mtDNA copy number and tumor-specific mtDNA mutations/RNAs show potential for early BC detection in bodily fluids.
- Mitochondrial proteins Lon protease, Mitofusin-2, and TFAM exhibit prognostic/predictive value.
Conclusions:
- mtDNA alterations represent promising novel biomarkers for bladder cancer risk assessment and early detection.
- Mitochondrial proteins offer potential as prognostic indicators and therapeutic targets for BC.
- Further research into mitochondrial dysfunction in BC could unveil new targeted therapeutic strategies.
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