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

Electron Transport Chain: Complex I and II

Electron Transport Chain: Complex I and II

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...

Gene Therapy

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...

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

Mitochondrial disease: mechanisms, signalling, and therapeutic opportunities.

Free radical biology & medicine·2026

Same author

Emerging therapeutic strategies for mitochondrial DNA-related diseases.

Cell reports. Medicine·2026

Same author

Letter to the Editor: Gastrointestinal Pseudo-Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants-Authors' Reply.

European journal of neurology·2026

Same author

Adeno-Associated virus-based approaches for mitochondrial diseases: advances and challenges.

Molecular psychiatry·2026

Same author

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

European journal of neurology·2026

Same author

Human neuromuscular organoids mimic cancer-induced muscle cachexia.

Cell reports methods·2026

Same journal

Preface.

Handbook of clinical neurology·2026

Same journal

Foreword.

Handbook of clinical neurology·2026

Same journal

Fundus autofluorescence imaging.

Handbook of clinical neurology·2026

Same journal

The electroretinogram as a means to study the physiology of the retina.

Handbook of clinical neurology·2026

Same journal

Adaptive optics scanning light ophthalmoscopy.

Handbook of clinical neurology·2026

Same journal

Modeling the human retina in a dish: Advances and future directions.

Handbook of clinical neurology·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Aug 9, 2025

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

Experimental therapy for mitochondrial diseases.

Carlo Viscomi¹, Massimo Zeviani²

¹Department of Biomedical Sciences, University of Padova, Padova, Italy.

Handbook of Clinical Neurology

|February 22, 2023

Summary

This summary is machine-generated.

Mitochondrial diseases stem from faulty energy production. Emerging therapies, including gene and cell treatments, offer hope for cures beyond supportive care.

Keywords:

AAV Gene therapy Mitochondrial biogenesis Mitochondrial disease Mitophagy OxPhos Rapamycin

More Related Videos

Isolation and Functional Analysis of Mitochondria from Cultured Cells and Mouse Tissue

Isolation and Functional Analysis of Mitochondria from Cultured Cells and Mouse Tissue

Published on: March 23, 2015

Generation of Human Brain Organoids for Mitochondrial Disease Modeling

Generation of Human Brain Organoids for Mitochondrial Disease Modeling

Published on: June 21, 2021

Related Experiment Videos

Last Updated: Aug 9, 2025

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

Isolation and Functional Analysis of Mitochondria from Cultured Cells and Mouse Tissue

Isolation and Functional Analysis of Mitochondria from Cultured Cells and Mouse Tissue

Published on: March 23, 2015

Generation of Human Brain Organoids for Mitochondrial Disease Modeling

Generation of Human Brain Organoids for Mitochondrial Disease Modeling

Published on: June 21, 2021

Area of Science:

Biochemistry
Genetics
Mitochondrial Medicine

Background:

Mitochondrial diseases are complex genetic disorders impacting oxidative phosphorylation (OxPhos).
Current treatments focus on symptom management, with no definitive cures available.
Mitochondria, controlled by both mitochondrial DNA (mtDNA) and nuclear DNA, are crucial for numerous cellular functions beyond energy production.

Approach:

Reviewing recent preclinical therapeutic advancements for mitochondrial disorders.
Updating the status of ongoing clinical applications for these conditions.
Classifying therapeutic strategies into general and personalized approaches.

Key Points:

Mitochondrial dysfunction affects diverse cellular pathways, presenting multiple therapeutic targets.
Therapies include broad approaches and personalized strategies like gene therapy, cell therapy, and organ replacement.
Significant progress in mitochondrial medicine is leading to increased clinical applications.

Conclusions:

Mitochondrial medicine is rapidly advancing, with new therapeutic strategies emerging.
The development of etiologic treatments for mitochondrial diseases is becoming a realistic possibility.
A new era of targeted and curative therapies for these genetic disorders is dawning.