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

7.9K
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...
7.9K
Nucleotide Excision Repair01:38

Nucleotide Excision Repair

3.7K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
3.7K
Mismatch Repair01:20

Mismatch Repair

5.1K
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...
5.1K
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

14.9K
The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...
14.9K
Mutations01:39

Mutations

84.2K
Overview
84.2K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

231
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
231

You might also read

Related Articles

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

Sort by
Same author

Structural Polymorphism of polyG Inclusions Revealed by In Situ Cryo-Electron Tomography.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026
Same author

Novel High-Efficacy Antimicrobial Peptides Derived from Myxinidin and their Therapeutic Efficacy in Bacterial Pneumonia.

Journal of medicinal chemistry·2026
Same author

Droplet Microfluidics-Enabled Mitochondrial Transfer from Young to Senescent MSCs to Ameliorate Cellular Senescence.

ACS applied materials & interfaces·2026
Same author

Successful management of uncommon embedded foreign body ingestion: a case report.

Journal of medical case reports·2026
Same author

Reagent-Free Molecular Pendulum Biosensor with Antibody-Aptamer Dual Recognition for Protein Analysis.

ACS sensors·2026
Same author

AuPt alloy nanowires <i>via</i> heterogeneous doping for enhanced ethanol electrooxidation.

Chemical communications (Cambridge, England)·2026

Related Experiment Video

Updated: Aug 29, 2025

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
06:05

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

Published on: March 9, 2022

3.9K

DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.

Jiayu Sun1,2,3, Wenwen Su1, Jianwen Deng4

  • 1Department of Otolaryngology, Head and Neck Surgery, Peking University First Hospital, Beijing, China.

Journal of Human Genetics
|September 5, 2022
PubMed
Summary

A novel DNA2 gene variant (c.2368C>T) causes mitochondrial DNA (mtDNA) depletion syndrome (MDS) by impairing mtDNA maintenance. This discovery expands the known genetic causes of MDS and highlights DNA2's role in mitochondrial health.

More Related Videos

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

37.0K
Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
08:41

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration

Published on: December 27, 2024

1.6K

Related Experiment Videos

Last Updated: Aug 29, 2025

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
06:05

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

Published on: March 9, 2022

3.9K
Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

37.0K
Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
08:41

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration

Published on: December 27, 2024

1.6K

Area of Science:

  • Genetics
  • Molecular Biology
  • Mitochondrial Biology

Background:

  • Mitochondrial DNA (mtDNA) maintenance is crucial for cellular energy production.
  • mtDNA depletion syndrome (MDS) encompasses a group of rare genetic disorders characterized by reduced mtDNA levels.
  • The DNA2 gene is involved in DNA replication and repair, but its role in mtDNA maintenance is less understood.

Observation:

  • A patient presented with hearing loss and myopathy, with a family history suggestive of a genetic disorder.
  • Genetic analysis revealed a heterozygous truncating variant in the DNA2 gene (c.2368C>T, p.Q790X).
  • Muscle biopsy and in vitro experiments confirmed decreased mtDNA copy number, reduced ATP production, and altered reactive oxygen species (ROS) levels.

Findings:

  • The identified DNA2 variant (p.Q790X) directly impairs mtDNA maintenance, leading to mtDNA depletion.
  • Functional studies demonstrated that this variant causes a significant reduction in mtDNA copy number.
  • The molecular defects were associated with decreased cellular energy (ATP) and altered oxidative stress markers (ROS).

Implications:

  • This study identifies a novel DNA2 variant as a cause of MDS, expanding the genetic landscape of this disorder.
  • The findings reveal a previously unrecognized role for DNA2 in the integrity and maintenance of mtDNA.
  • Understanding DNA2's function in mtDNA maintenance opens new avenues for investigating MDS pathogenesis and potential therapeutic strategies.