Induced pluripotent stem cell-based leber hereditary optic neuropathy model

You Ren Wu, Tien Chun Yang, Aliaksandr A. Yarmishyn, Shih Jen Chen, An Guor Wang, Shih Hwa Chiou

Research output: Chapter in Book/Report/Conference proceedingChapter


Leber’s hereditary optic neuropathy (LHON) is the maternally inherited mitochondrial disease caused by homoplasmic mutations in the mitochondrial electron transport chain. The pathological mechanism of LHON is still unclear. The feature of incomplete penetrance indicates that complex factors are involved in the phenotypic expression of LHON. Therefore, the application of appropriate experimental models in the etiology of LHON requires further understanding. The traditional cell models of LHON were non-neuronal cells carrying mtDNA mutation, such as patient fibroblasts and cybrid cells, however, mutation is necessary but not sufficient to cause LHON. Ideal models of LHON should be capable of presenting incomplete penetrance that distinguishes healthy carrier cells from affected cells. In this chapter, we review the pathophysiology of LHON as it relates to old, new, and future models. We further compare the advantages and disadvantages of different models of LHON and clarify unanswered questions that might help to explore the new model in the future.

Original languageEnglish
Title of host publicationiPSCs for Modeling Central Nervous System Disorders, Volume 6
Number of pages16
ISBN (Electronic)9780323857642
Publication statusPublished - Jan 1 2021
Externally publishedYes


  • Cybrid cell
  • Fibroblast
  • Heteroplasmy
  • Homoplasmy
  • Incomplete penetrance
  • Induced pluripotent stem cell
  • Leber’s hereditary optic neuropathy
  • Mitochondrial complex i
  • Mitochondrial disease
  • MT-ND1
  • MT-ND4
  • MT-ND6
  • Peripheral blood mononuclear cell
  • Reactive oxygen species
  • Retinal ganglion cell

ASJC Scopus subject areas

  • General Agricultural and Biological Sciences
  • General Biochemistry,Genetics and Molecular Biology


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