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 Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

7.8K
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...
7.8K
Mismatch Repair01:36

Mismatch Repair

38.0K
Overview
38.0K
Mismatch Repair01:20

Mismatch Repair

5.4K
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...
5.4K
Mismatch Repair01:36

Mismatch Repair

11.0K
11.0K
Replication in Eukaryotes01:29

Replication in Eukaryotes

15.2K
In eukaryotic cells, DNA replication is highly conserved and tightly regulated. Multiple linear chromosomes must be duplicated with high fidelity before cell division, so there are many proteins that fulfill specialized roles in the replication process. Replication occurs in three phases: initiation, elongation, and termination, and ends with two complete sets of chromosomes in the nucleus.
Many Proteins Orchestrate Replication at the Origin
Eukaryotic replication follows many of the same...
15.2K
Replication in Eukaryotes02:31

Replication in Eukaryotes

156.8K
Overview
156.8K

You might also read

Related Articles

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

Sort by
Same author

Persistence of large mtDNA rearrangements linked to premature aging in Pol γ exonuclease-deficient mice.

Nucleic acids research·2026
Same author

Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.

International journal of molecular sciences·2025
Same author

DNA repair pathways in the mitochondria.

DNA repair·2025
Same author

Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.

European journal of medical genetics·2024
Same author

Structures of the mitochondrial single-stranded DNA binding protein with DNA and DNA polymerase γ.

Nucleic acids research·2024
Same author

Coordinated DNA polymerization by Polγ and the region of LonP1 regulated proteolysis.

Nucleic acids research·2024

Related Experiment Video

Updated: Apr 27, 2026

Author Spotlight: High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution
10:47

Author Spotlight: High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution

Published on: May 5, 2023

4.1K

Defects of mitochondrial DNA replication.

William C Copeland1

  • 1Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA copelan1@niehs.nih.gov.

Journal of Child Neurology
|July 3, 2014
PubMed
Summary
This summary is machine-generated.

Genetic defects in mitochondrial DNA replication cause mitochondrial diseases. This review examines genetic defects in DNA polymerase gamma (POLG) and associated proteins, leading to mtDNA instability and severe health conditions.

Keywords:
Alpers syndromeDNA polymerase γPOLGataxia-neuropathymitochondrial DNA depletion syndromemitochondrial DNA replicationprogressive external ophthalmoplegia

More Related Videos

In Situ Labeling of Mitochondrial DNA Replication in Drosophila Adult Ovaries by EdU Staining
10:31

In Situ Labeling of Mitochondrial DNA Replication in Drosophila Adult Ovaries by EdU Staining

Published on: October 15, 2016

11.1K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.0K

Related Experiment Videos

Last Updated: Apr 27, 2026

Author Spotlight: High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution
10:47

Author Spotlight: High-Throughput Image-Based Quantification of Mitochondrial DNA Synthesis and Distribution

Published on: May 5, 2023

4.1K
In Situ Labeling of Mitochondrial DNA Replication in Drosophila Adult Ovaries by EdU Staining
10:31

In Situ Labeling of Mitochondrial DNA Replication in Drosophila Adult Ovaries by EdU Staining

Published on: October 15, 2016

11.1K
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.0K

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Mitochondrial DNA (mtDNA) replication is crucial for cellular energy production via oxidative phosphorylation.
  • Replication involves DNA polymerase gamma (POLG) and accessory proteins.
  • Errors in mtDNA replication or nucleotide metabolism lead to genetic disorders.

Purpose of the Study:

  • To review current knowledge on genetic defects in mtDNA replication.
  • To highlight the role of specific genes (POLG, POLG2, C10orf2, MGME1) in mtDNA instability.
  • To connect these genetic defects to the pathogenesis of mitochondrial diseases.

Main Methods:

  • Literature review of genetic defects in mtDNA replication.
  • Analysis of studies linking gene mutations to mtDNA instability.
  • Compilation of data on associated mitochondrial genetic diseases.

Main Results:

  • Genetic defects in POLG, POLG2, C10orf2, and MGME1 are identified as causes of mtDNA instability.
  • mtDNA instability manifests as deletions, point mutations, or depletion.
  • These instabilities result in loss of oxidative phosphorylation and disease.

Conclusions:

  • Genetic defects in key mtDNA replication factors are significant contributors to mitochondrial diseases.
  • Understanding these defects is vital for diagnosing and potentially treating conditions like Alpers syndrome and progressive external ophthalmoplegia.