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Updated: May 10, 2026
08:48
Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
Published on: June 30, 2023
Mitochondrial disorders: aetiologies, models systems, and candidate therapies
G Jane Farrar1, Naomi Chadderton, Paul F Kenna
1Smurfit Institute of Genetics, School of Genetics & Microbiology, Trinity College Dublin, Dublin 2, Ireland. gjfarrar@tcd.ie
Trends in Genetics : TIG
|June 13, 2013
Summary
Human disorders often involve mitochondrial dysfunction from genetic mutations. This review highlights advances in cell and animal models and therapies for mitochondrial diseases, focusing on Leber hereditary optic neuropathy (LHON).
Area of Science:
- Mitochondrial biology and genetics
- Neurodegenerative diseases
- Genetics and genomics
Background:
- Mitochondrial dysfunction is a key factor in numerous human disorders.
- This dysfunction arises from primary genetic mutations affecting oxidative phosphorylation or secondary accumulation of mitochondrial DNA (mtDNA) mutations.
- Understanding these mechanisms is crucial for developing effective treatments.
Purpose of the Study:
- To review key advances in cell and animal models for mitochondrial disorders.
- To explore innovative therapeutic strategies targeting mitochondrial deficiencies.
- To focus specifically on Leber hereditary optic neuropathy (LHON) as a case study.
Main Methods:
- Review of current literature on mitochondrial disease models.
- Analysis of emerging therapeutic approaches for mitochondrial dysfunction.
- Case study focus on Leber hereditary optic neuropathy (LHON) research.
Main Results:
- Significant progress has been made in developing relevant cell and animal models.
- Innovative therapeutic strategies are being explored to address mitochondrial deficiencies.
- The field is rapidly advancing, with numerous candidate therapies emerging.
Conclusions:
- Mitochondrial dysfunction is a critical hallmark of many human diseases.
- Advances in modeling and therapeutics offer hope for treating these conditions.
- Leber hereditary optic neuropathy (LHON) serves as a key example of progress in this rapidly growing field.
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