Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Animal Mitochondrial Genetics

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...

Mutations

Mutations

You might also read

Related Articles

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

Sort by

Same author

Metastasis-related genomic aberrations and evolutionary trajectory in uveal melanoma.

Experimental & molecular medicine·2026

Same author

Clonal evolution and mutational trajectories of metastatic colorectal cancer shaped by anticancer therapies.

Nature communications·2026

Same author

Case 22: A 65-Year-Old-Woman With Neutropenia.

Journal of Korean medical science·2026

Same author

Rapidly progressive varicella zoster virus vasculopathy in a chemotherapy- and steroid-immunosuppressed patient with refractory diffuse large B-cell lymphoma: diagnostic and therapeutic challenges.

Blood research·2026

Same author

Outcomes of tisagenlecleucel versus allogeneic hematopoietic stem cell transplantation in relapsed or refractory large B-cell lymphoma.

Cytotherapy·2026

Same author

Integrative Multiomic Classification Reveals Distinct Origins and Evolutionary Trajectories of Thymic Epithelial Tumors.

Cancer research·2026

Search research articles

Related Experiment Video

Updated: Sep 6, 2025

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

Identifying Somatic Mitochondrial DNA Mutations.

Jisong An¹, Kyoung Il Min¹, Young Seok Ju²

¹Graduate School of Medical Science and Engineering (GSMSE), Korea Advanced Institute of Science and Technology (KAIST), Daejeon, Republic of Korea.

Methods in Molecular Biology (Clifton, N.J.)

|June 25, 2022

Summary

Cancer cells accumulate mutations in mitochondrial DNA (mtDNA), distinct from nuclear DNA. This study outlines methods to accurately detect these somatic mtDNA mutations in cancer genomes.

Keywords:

Bioinformatics Genome sequencing Genomics Heteroplasmy Mitochondria Next-generation sequencing Somatic mutations

More Related Videos

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Published on: May 20, 2018

Related Experiment Videos

Last Updated: Sep 6, 2025

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Methodology for Accurate Detection of Mitochondrial DNA Methylation

Published on: May 20, 2018

Area of Science:

Cellular Biology
Genetics
Oncology

Background:

Mitochondria are vital organelles in eukaryotes, responsible for cellular energy production.
Human cells contain nuclear DNA and numerous mitochondria, each with a small circular mitochondrial DNA (mtDNA) genome.
The mtDNA encodes essential proteins for the respiratory chain, crucial for cellular function.

Purpose of the Study:

To describe strategies for the accurate identification of somatic mitochondrial DNA (mtDNA) mutations in cancer studies.
To address the challenges in detecting mtDNA mutations due to their heteroplasmic nature within cancer cells.

Main Methods:

Utilizing whole-genome or whole-exome sequencing of tumor tissues and matched normal controls.
Employing sensitive detection methods to identify somatic alterations within the mtDNA.

Main Results:

Somatic mtDNA mutations are frequently acquired in cancer cells, similar to nuclear genome alterations.
Detection sensitivity for mtDNA mutations depends on the heteroplasmic level present in each cancer cell.

Conclusions:

Accurate identification of somatic mtDNA mutations is feasible using advanced sequencing techniques.
Understanding mtDNA alterations in cancer contributes to a comprehensive view of cancer genomics.