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Development of Two In Vitro ND1-LHON Models for Evaluating Gene Therapy Efficacy.

Xin Li1, Jun Yuan1, Zhang Chen1

  • 1Department of Ophthalmology, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei Province, People's Republic of China.

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|October 23, 2025
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Summary

This study developed in vitro models for NADH-ubiquinone oxidoreductase chain 1 (ND1)-related Leber hereditary optic neuropathy (LHON) and tested recombinant adeno-associated virus (AAV)-mediated ND1 gene therapy. The gene therapy successfully restored mitochondrial function in LHON models, showing therapeutic potential.

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Area of Science:

  • Mitochondrial genetics
  • Neuro-ophthalmology
  • Gene therapy

Background:

  • Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease.
  • Mutations in the NADH-ubiquinone oxidoreductase chain 1 (ND1) gene are a significant cause of LHON.
  • Current treatments for ND1-related LHON are limited, necessitating the development of novel therapeutic strategies.

Purpose of the Study:

  • To establish reliable in vitro models that mimic mitochondrial dysfunction in ND1-related LHON.
  • To evaluate the therapeutic efficacy of recombinant adeno-associated virus (AAV)-mediated ND1 gene therapy (rAAV-ND1) in these models.

Main Methods:

  • Development of two in vitro models: transmitochondrial cybrid cells with the m.3460G>A ND1 mutation and patient-derived induced pluripotent stem cell (iPSC)-differentiated retinal ganglion cells (RGCs).
  • Assessment of mitochondrial function through oxygen consumption and adenosine triphosphate (ATP) production measurements.
  • Treatment of models with rAAV-ND1 to evaluate restoration of mitochondrial function.

Main Results:

  • Both ND1-mutant cybrid cells and iPSC-RGCs successfully recapitulated mitochondrial dysfunction, including impaired oxidative phosphorylation and reduced ATP production.
  • rAAV-ND1 treatment demonstrated dose-dependent transgene expression and correct mitochondrial localization.
  • Significant restoration of mitochondrial function was observed, including improved spare respiratory capacity, enhanced complex I activity, and increased ATP production in both models.

Conclusions:

  • Transmitochondrial cybrid cells and iPSC-derived RGCs serve as effective in vitro models for studying ND1-related LHON.
  • rAAV-ND1 gene therapy shows significant promise for restoring mitochondrial function and offers a potential treatment for LHON patients with ND1 mutations.
  • In vitro models are valuable tools for evaluating therapeutic interventions, especially when suitable animal models are lacking.