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Published on: January 10, 2019
Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options
Valerio Carelli1, Chiara La Morgia, Alfredo A Sadun
1Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy. valerio.carelli@unibo.it
Current Opinion in Neurology
|January 11, 2013
Summary
Recent advances in animal models for mitochondrial optic neuropathies like Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are reviewed. New models and therapies, including gene therapy, are paving the way for human clinical trials.
Area of Science:
- Ophthalmology
- Genetics
- Mitochondrial Biology
Background:
- Mitochondrial optic neuropathies, including Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), present complex challenges in research.
- Developing accurate animal models for mitochondrial DNA (mtDNA)-based diseases has faced significant limitations compared to nuclear gene defect disorders.
Purpose of the Study:
- To review recent advancements in animal models for studying mitochondrial optic neuropathies.
- To explore therapeutic strategies developed for these complex genetic disorders.
- To highlight the progress in preclinical research and its translation to human clinical trials.
Main Methods:
- Review of literature on the generation and characterization of animal models for mitochondrial optic neuropathies.
- Analysis of various approaches for modeling mitochondrial DNA (mtDNA)-based diseases, including biochemical and tissue-specific delivery methods.
- Examination of emerging therapeutic strategies such as gene therapy, novel quinone-derived molecules, and pharmacological activation of mitochondrial biogenesis.
Main Results:
- Significant progress has been made in creating animal models that recapitulate features of human mitochondrial optic neuropathies, including the first mito-mice model for LHON.
- Innovative techniques have overcome challenges in modeling mtDNA-based diseases, enabling the study of retinal ganglion cell dysfunction.
- Early-stage clinical trials are underway for several therapeutic interventions, indicating promising translational research.
Conclusions:
- Major breakthroughs in delivering mtDNA and generating faithful animal models have been achieved for optic neuropathies.
- The development of these models, alongside those for nuclear-encoded optic neuropathies, offers crucial platforms for testing novel therapies.
- These advancements are accelerating the development of genetic and pharmacological treatments, paving the way for human clinical applications.
