Qualitative and quantitative changes in mitochondrial DNA associated with cervical cancer: A comprehensive review

Environ Mol Mutagen. 2024 Mar-Apr;65(3-4):143-152. doi: 10.1002/em.22591. Epub 2024 Mar 24.

Abstract

Cervical cancer is the fourth most commonly diagnosed cancer in women and is considered a preventable disease, as vaccination and screening programs effectively reduce its incidence and mortality rates. Disease physiopathology and malignant cell transformation is a complex process, but it is widely known that high-risk HPV (hrHPV) infection is a necessary risk factor for cancer development. Mitochondria, cell organelles with important bioenergetic and biosynthetic functions, are important for cell energy production, cell growth, and apoptosis. Mitochondrial DNA is a structure that is particularly susceptible to quantitative (mtDNA copy number variation) and qualitative (sequence variations) alterations that are associated with various types of cancer. Novel biomarkers with diagnostic and prognostic value in cervical cancer can be evaluated to provide higher specificity and complement hrHPV molecular testing, which is the most recommended method for primary screening. In accordance with this, this review aimed to assess mitochondrial alterations associated with cervical cancer in clinical cervicovaginal samples, in order to unravel their possible role as specific diagnostic and prognostic biomarkers for cervical malignancy, and also to guide the understanding of their involvement in carcinogenesis, HPV infection, and disease progression.

Keywords: HPV; cervical cancer; mitochondrial DNA; mitochondrial DNA copy number; mitochondrial DNA mutation.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • DNA Copy Number Variations*
  • DNA, Mitochondrial* / genetics
  • Female
  • Humans
  • Mitochondria / genetics
  • Mitochondria / metabolism
  • Papillomavirus Infections* / complications
  • Papillomavirus Infections* / genetics
  • Papillomavirus Infections* / virology
  • Prognosis
  • Uterine Cervical Neoplasms* / genetics
  • Uterine Cervical Neoplasms* / pathology
  • Uterine Cervical Neoplasms* / virology

Substances

  • DNA, Mitochondrial
  • Biomarkers, Tumor