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Mitochondrial DNA alterations in precision oncology: Emerging roles in diagnostics and therapeutics

Alexis Germán Murillo Carrasco1, Roger Chammas1, Tatiane Katsue Furuya1

  • 1Centro de Investigação Translacional em Oncologia (LIM24), Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil; Comprehensive Center for Precision Oncology, Universidade de São Paulo, São Paulo, Brazil.

Clinics (Sao Paulo, Brazil)
|January 30, 2025
PubMed

Insights

Mitochondrial DNA (mtDNA) alterations are crucial biomarkers in cancer, aiding diagnosis, progression monitoring, and predicting treatment resistance. Their role in precision oncology and theranostics is rapidly expanding.

Area of Science:

  • Cell Biology
  • Molecular Oncology
  • Biochemistry

Background:

  • Mitochondria are vital organelles involved in cellular functions like ATP production and apoptosis.
  • Mitochondrial DNA (mtDNA) alterations are increasingly recognized for their role in disease development, particularly cancer.
  • The unique properties of mtDNA make it a promising source for cancer biomarkers.

Purpose of the Study:

  • To review the emerging roles of mtDNA alterations in precision oncology.
  • To emphasize the potential of mtDNA alterations in theranostics (diagnosis and therapy).
  • To explore the integration of mtDNA-based diagnostics with current cancer treatment strategies.

Main Methods:

  • Review of current literature on mtDNA alterations in cancer.
  • Exploration of mechanisms linking mtDNA mutations to tumorigenesis and therapy resistance.
  • Discussion of experimental tools and models for investigating mtDNA alterations, including advanced sequencing and animal models.

Main Results:

  • mtDNA alterations serve as valuable biomarkers for cancer diagnosis, monitoring, metastasis detection, and predicting treatment resistance.
  • mtDNA mutations contribute to cancer development and influence therapy resistance.
  • Heteroplasmy (coexistence of different mtDNA types) plays a significant role in cancer biology.

Conclusions:

  • mtDNA alterations hold significant promise for advancing precision oncology and theranostics.
  • Integrating mtDNA diagnostics with therapeutic strategies can personalize cancer care.
  • Further research using advanced tools is essential to fully leverage mtDNA alterations in cancer management.
Keywords:
BiomarkersCancerMitochondrial genomeMutationsPrecision oncology

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