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

Mouse Models of Cancer Study

Mouse Models of Cancer Study

Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...

In-vitro Mutagenesis

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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...

You might also read

Related Articles

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

Sort by

Same author

Investigating the relationship between ATP synthase and the TCA cycle by crosslinking mass spectrometry.

Nature communications·2026

Same author

MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment.

Human molecular genetics·2026

Same author

Cancer as a window into mitochondrial biology.

Cell metabolism·2026

Same author

Mammalian mtDNA gene expression: Concepts learned from in vivo models.

Biochimica et biophysica acta. Molecular cell research·2026

Same author

MitoSAM-dependent lipoylation controls postnatal heart development via metabolic remodeling.

bioRxiv : the preprint server for biology·2026

Same author

Purifying selection during maternal inheritance of mammalian mtDNA depends on autophagy and bottleneck size.

Autophagy·2026

Search research articles

Related Experiment Video

Updated: Mar 15, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease.

Johanna H K Kauppila¹, Holly L Baines², Ana Bratic¹

¹Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, Cologne 50931, Germany.

|September 15, 2016

Summary

Researchers developed a new method to create animal models for mitochondrial DNA (mtDNA) diseases. This approach uses mouse breeding and histology to generate mice with pathogenic mtDNA mutations, aiding disease research.

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

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

Related Experiment Videos

Last Updated: Mar 15, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

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

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

Area of Science:

Mitochondrial biology
Genetics
Animal modeling

Background:

Mitochondrial DNA (mtDNA) mutations are a significant cause of human diseases.
Developing animal models for these conditions is challenging due to limitations in mitochondrial gene manipulation in mammals.
Existing strategies often involve introducing cell line-derived mutations into mouse embryos.

Purpose of the Study:

To establish a novel, phenotype-driven strategy for generating mouse models of mitochondrial DNA (mtDNA) mutation diseases.
To overcome the technical hurdles in creating mammalian models with pathogenic mtDNA mutations.
To provide valuable tools for studying mitochondrial disease pathophysiology and testing potential treatments.

Main Methods:

A phenotype-driven strategy was employed, focusing on detecting clonal expansion of pathogenic mtDNA mutations.
Founder mice were derived from heterozygous mtDNA mutator mice.
Histological analysis of colonic crypts was used to identify and track mutations.

Main Results:

A mouse line was successfully generated, transmitting a heteroplasmic pathogenic mutation in the alanine tRNA gene of mtDNA.
The generated mouse model exhibited characteristics typical of classic mitochondrial disease.
The strategy proved effective in creating a viable animal model for studying mtDNA-related disorders.

Conclusions:

A straightforward and technically simple strategy utilizing mouse breeding and histology has been developed.
This method enables the generation of animal models for mtDNA-mutation diseases.
These new models are crucial for advancing research into disease mechanisms and preclinical therapeutic trials for mitochondrial disorders.