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Related Concept Videos

Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

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Related Experiment Video

Updated: May 19, 2026

Transmitochondrial Cybrid Generation Using Cancer Cell Lines
07:49

Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

Somatic mitochondrial DNA mutations in human cancers.

Man Yu1

  • 1Centre for Advanced Research in Environmental Genomics, Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada. myu073@uottawa.ca

Advances in Clinical Chemistry
|August 9, 2012
PubMed
Summary

Mitochondrial DNA (mtDNA) mutations are linked to cancer development. Understanding these changes could lead to new cancer diagnostics and therapies.

Area of Science:

  • Cell Biology
  • Genetics
  • Oncology

Background:

  • Mitochondria regulate cellular energy and apoptosis; dysfunction is linked to cancer.
  • Somatic mutations in mitochondrial DNA (mtDNA) accumulate in human cancers.
  • The precise role of mtDNA mutations in cancer remains unclear.

Purpose of the Study:

  • Review somatic mtDNA mutations in human cancers.
  • Explore the causal roles of mtDNA variations in cancer.
  • Discuss potential diagnostic and therapeutic applications of mtDNA alterations.

Main Methods:

  • Literature review of somatic mtDNA mutations in malignancies.
  • Analysis of recent advances in understanding mtDNA's role in cancer.
  • Examination of mitochondria-to-nucleus signaling pathways.

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MitoCeption: Transferring Isolated Human MSC Mitochondria to Glioblastoma Stem Cells
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MitoCeption: Transferring Isolated Human MSC Mitochondria to Glioblastoma Stem Cells

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Last Updated: May 19, 2026

Transmitochondrial Cybrid Generation Using Cancer Cell Lines
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Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry
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MitoCeption: Transferring Isolated Human MSC Mitochondria to Glioblastoma Stem Cells
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MitoCeption: Transferring Isolated Human MSC Mitochondria to Glioblastoma Stem Cells

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Main Results:

  • Numerous somatic mtDNA mutations are found across various cancers.
  • mtDNA alterations may contribute to cancer initiation and progression.
  • mtDNA changes can influence nuclear gene expression and epigenetic modifications.

Conclusions:

  • mtDNA mutations play a significant role in cancer pathogenesis.
  • Further research is needed to clarify the functional impact of specific mtDNA mutations.
  • mtDNA alterations show promise as cancer biomarkers and therapeutic targets.