Related Experiment Video
Updated: Mar 19, 2026
Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
Mouse models for mitochondrial diseases
Benedetta Ruzzenente1, Agnès Rötig1, Metodi D Metodiev2
1INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
Abstract:
Mitochondrial diseases are heterogeneous and incurable conditions typically resulting from deficient ATP production in the cells. Mice, owing to their genetic and physiological similarity to humans as well as their relatively easy maintenance and propagation, are extremely valuable for studying mitochondrial diseases and are also indispensable for the preclinical evaluation of novel therapies for these devastating conditions. Here, we review the recent exciting developments in the field focusing on mouse models for mitochondrial disease genes although models for genes not involved in the pathogenesis of mitochondrial disease and therapeutic proof-of-concept studies using mouse models are also discussed.
Insights
Mice are crucial for studying incurable mitochondrial diseases and testing new treatments. This review highlights recent advancements in mouse models for these complex genetic conditions.
Area of Science:
- Biomedical Research
- Genetics
- Cellular Biology
Background:
- Mitochondrial diseases are a diverse group of incurable genetic disorders characterized by impaired cellular energy production (ATP).
- Understanding the genetic basis and developing effective treatments for these conditions remains a significant challenge in medicine.
Approach:
- This review focuses on the utility of mouse models in advancing the study of mitochondrial diseases.
- It examines recent developments in creating and utilizing mouse models that replicate human mitochondrial genetic defects.
Key Points:
- Mouse models offer significant advantages for studying mitochondrial diseases due to genetic and physiological similarities to humans.
- The review discusses models for specific mitochondrial disease genes and explores their application in preclinical therapeutic evaluations.
- It also touches upon models for non-disease genes and proof-of-concept therapeutic studies.
Conclusions:
- Mouse models are indispensable tools for dissecting the pathogenesis of mitochondrial diseases and for validating potential therapeutic strategies.
- Continued development and application of sophisticated mouse models will accelerate progress towards effective treatments for patients.
Related Concept Videos
02:43Mouse Models of Cancer Study
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
02:59Animal Mitochondrial Genetics