Emerging model systems and treatment approaches for Leber's hereditary optic neuropathy: Challenges and opportunities

Tyler Bahr, Kyle Welburn, Jonathan Donnelly, Yidong Bai

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease mainly affecting retinal ganglion cells (RGCs). The pathogenesis of LHON remains ill-characterized due to a historic lack of effective disease models. Promising models have recently begun to emerge; however, less effective models remain popular. Many such models represent LHON using non-neuronal cells or assume that mutant mtDNA alone is sufficient to model the disease. This is problematic because context-specific factors play a significant role in LHON pathogenesis, as the mtDNA mutation itself is necessary but not sufficient to cause LHON. Effective models of LHON should be capable of demonstrating processes that distinguish healthy carrier cells from diseased cells. In light of these considerations, we review the pathophysiology of LHON as it relates to old, new and future models. We further discuss treatments for LHON and unanswered questions that might be explored using these new model systems.

Original languageEnglish (US)
Article number165743
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1866
Issue number6
DOIs
StatePublished - Jun 1 2020

Keywords

  • Induced pluripotent stem cells
  • Leber's hereditary optic neuropathy
  • Mitochondrial disease
  • Retinal ganglion cells

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

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