Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Mitochondrial genome instability in human cancers.

N O Bianchi1, M S Bianchi, S M Richard

  • 1Instituto Multidisciplinario de Biología Celular (IMBICE), CC 403, 1900, La Plata, Argentina. bianchi@satlink.com

Mutation Research
|February 27, 2001
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

CYTOGENETICS OF THE SOUTH AMERICAN AKODONT RODENTS (CRICETIDAE). I. A PROGRESS REPORT OF ARGENTINIAN AND VENEZUELAN FORMS.

Evolution; international journal of organic evolution·2017
Same author

Sex chromosome replication and sex chromatin inAkodon azarae (Rodentia Cricetidae).

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2014
Same author

Oligodeoxynucleotide IMT504: lack of effect on immune parameters during islet regeneration in single dose streptozotocin-induced diabetes.

Diabetes/metabolism research and reviews·2011
Same author

Technique for investigation of sex chromatin in amniotic membrane of rat foetuses.

Nature·2010
Same author

HIV-1 vertical transmission in Rio Grande, Southern Brazil.

International journal of STD & AIDS·2010
Same author

Mitochondrial genome instability in cancer.

Cytogenetic and genome research·2010
Same journal

Monoallelic germline RAD51C, RAD51D, and BRIP1 variants in hereditary cancer testing: Variant spectrum and clinical counselling implications.

Mutation research·2026
Same journal

Prediction of hepatocellular carcinoma associated biomarkers in TP53 gene; A comprehensive in silico analysis.

Mutation research·2026
Same journal

IDH1 mutation promotes angiogenesis via upregulation of hypoxia inducible factor 1 alpha in glial tumors.

Mutation research·2026
Same journal

Targeting overexpressed oncogenes in esophageal cancer through miRNA-mediated gene silencing: Insights from binding affinity and thermodynamic profiling.

Mutation research·2026
Same journal

The active compound quercetin from Polygonum cuspidatum targets COL3A1 to enhance CD8⁺ T cell cytotoxicity in gastric cancer.

Mutation research·2026
Same journal

E2F1 promotes LIHC malignant phenotype via NEK2-mediated Wnt/β-catenin and Notch activation and EMT.

Mutation research·2026
See all related articles

Mitochondrial genome instability (mtGI) is observed in most human cancers, distinct from nuclear genome instability (NGI). This instability, characterized by various mtDNA mutations, appears specific to tumor type and may arise from replication errors or selective advantages of mutated mtDNA.

Area of Science:

  • Genetics and Molecular Biology
  • Cancer Research
  • Mitochondrial Biology

Background:

  • Malignant transformation is linked to nuclear genome instability (NGI), often involving mismatch repair (MMR) gene malfunction.
  • Microsatellite instability (MSI), a marker of NGI, involves alterations in non-inherited microsatellite alleles within tumor cells.
  • Mitochondrial DNA (mtDNA) plays a crucial role in cellular energy production and is susceptible to mutations.

Purpose of the Study:

  • To investigate the presence and characteristics of mitochondrial genome instability (mtGI) across various human cancers.
  • To compare mtGI patterns with nuclear genome instability (NGI) and explore potential correlations.
  • To elucidate the mechanisms contributing to the origin and expansion of mtGI in tumor cells.

Main Methods:

Related Experiment Videos

  • Analysis of mtDNA markers including point mutations, repeat instability, insertions/deletions, and long deletions in tumor versus normal tissues.
  • Assessment of homoplasmic and heteroplasmic mutation states within tumor mtDNA.
  • Correlation analysis between NGI markers and mtGI patterns in different cancer types.

Main Results:

  • Mitochondrial genome instability (mtGI) was detected in most analyzed human cancers, with distinct mutation patterns for breast, colorectal, gastric, and kidney cancers.
  • No consistent correlation between NGI and mtGI was observed in breast, colorectal, or kidney cancers; a positive correlation was found in gastric cancer.
  • Germ cell testicular cancers were found to lack mtGI, suggesting tissue-specific mechanisms.

Conclusions:

  • mtGI is a common feature in human cancers, driven by factors like reactive oxygen species (ROS), slipped-strand mispairing (SSM), and deficient repair.
  • The polymerase gamma (POLgamma) enzyme, crucial for mtDNA synthesis, is implicated due to its error-prone nature and lack of proofreading.
  • Expansion of specific mtDNA variants within tumors likely results from selective advantages or replicative benefits, possibly coupled with mitochondrial segregation bottlenecks during mitosis.