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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.
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Updated: Mar 19, 2026

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

Human Molecular Genetics
|June 23, 2016
PubMed
Summary
This summary is machine-generated.

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.

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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.