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Defects in the Mitochondrial Genome of Dogs with Recurrent Tumours

Krzysztof Kowal1, Kaja Ziółkowska-Twarowska1, Angelika Tkaczyk-Wlizło1

  • 1Institute of Biological Bases of Animal Production, University of Life Sciences in Lublin, Akademicka 13 St., 20-950 Lublin, Poland.

International Journal of Molecular Sciences
|January 8, 2025
PubMed

Insights

This study analyzed canine mitochondrial DNA (mtDNA) mutations in tumors using long-read sequencing. Specific mtDNA D-loop mutations were linked to tumor tissues, offering insights into cancer pathogenesis.

Area of Science:

  • Genetics
  • Oncology
  • Bioinformatics

Background:

  • Mitochondrial DNA (mtDNA) plays a role in cellular energy production and is implicated in cancer.
  • Understanding mtDNA variations in canine cancers can provide insights into tumor development and progression.

Purpose of the Study:

  • To comprehensively analyze mtDNA variations in canine primary and recurrent tumors.
  • To identify specific mtDNA mutations and heteroplasmy levels associated with canine cancer pathogenesis.
  • To explore the utility of long-read sequencing for investigating the mtDNA mutational landscape in canine tumors.

Main Methods:

  • Mitochondrial DNA was extracted from blood and tumor tissues of three dogs with primary and recurrent tumors.
  • Long-read sequencing using Oxford Nanopore Technologies (ONT) was employed for comprehensive mtDNA analysis.
  • Polymorphisms, mutations, and heteroplasmy levels were quantified and analyzed.

Main Results:

  • Mutations were identified in the D-loop region, particularly the VNTR region, potentially affecting mtDNA replication and stability.
  • Specific mtDNA mutations (m.16168A/G, m.16188G/A, and m.16298A/G) were found to be associated with tumor tissues.
  • Overall mtDNA mutational load did not significantly differ between primary and recurrent tumors.
  • Heteroplasmy outside the D-loop region was not tumor-specific and did not affect protein-coding sequences, possibly indicating tolerance to reactive oxygen species (ROS) stress.

Conclusions:

  • The D-loop region of mtDNA harbors mutations potentially critical for canine cancer progression.
  • Long-read sequencing is a valuable tool for exploring the mtDNA mutational landscape in canine tumors.
  • Specific mtDNA variations may serve as biomarkers or targets for understanding canine cancer.
Keywords:
Oxford Nanopore SequencingcancersdogmtDNA

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