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Role of Mitochondrial DNA (mtDNA) Variations in Cancer Development: A Systematic Review

Nisha Thakur1, Amitesh Kumar Sharma2, Harpreet Singh2

  • 1Division of Molecular Diagnostics, Indian Council of Medical Research (ICMR)-National Institute of Cancer Prevention and Research (NICPR), Ministry of Health & Family Welfare (Govt. of India), Noida, India.

Cancer Investigation
|July 17, 2020
PubMed

Insights

Mitochondrial DNA (mtDNA) variations, particularly polymorphisms, show significant potential as key predictors for various human cancers. This systematic review highlights their role in cancer risk assessment.

Area of Science:

  • Cell Biology
  • Genetics
  • Oncology

Background:

  • Mitochondrial DNA (mtDNA) is crucial for cellular functions beyond energy production, including redox homeostasis, signaling, metabolism, immunity, survival, and apoptosis.
  • Mitochondria, containing mtDNA, play a vital role in various cellular processes.
  • The maternal inheritance pattern of mtDNA is a key characteristic.

Purpose of the Study:

  • To conduct a systematic review on the association between mitochondrial DNA (mtDNA) variations and cancer risk.
  • To address the lack of comprehensive reviews on mtDNA variations in cancer research.
  • To identify the potential of mtDNA variations as predictive biomarkers for human cancers.

Main Methods:

  • Literature search conducted across PubMed, Embase, and Cochrane Library databases.
  • Keywords used included 'Mitochondrial DNA' OR 'mtDNA' OR 'mDNA' AND 'polymorphism' AND 'cancer' AND 'risk'.
  • Systematic review methodology was employed to analyze retrieved literature.

Main Results:

  • Mitochondrial DNA (mtDNA) variations, including polymorphisms, copy number variations (CNV), microsatellite instability (MSI), and mutations, are associated with cancer.
  • Polymorphisms represent the most prevalent category among mtDNA variations.
  • These variations hold significant promise as predictive markers for cancer development.

Conclusions:

  • Mitochondrial DNA (mtDNA) variations, especially polymorphisms, are strongly implicated in cancer risk.
  • mtDNA variations are emerging as critical predictors for human cancers.
  • Further research into mtDNA variations could lead to novel cancer diagnostic and prognostic tools.
Keywords:
Mitochondrial DNAcancerpolymorphism

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