Creating Cell Model 2.0 Using Patient Samples Carrying a Pathogenic Mitochondrial DNA Mutation: iPSC Approach for LHON

Pragya Singh, Tyler Bahr, Xiaoxu Zhao, Peiqing Hu, Marcel Daadi, Tao Sheng Huang, Yidong Bai

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Abstract

Leber’s Hereditary Optic Neuropathy is the most prevalent mitochondrial neurological disease caused by mutations in mitochondrial DNA encoded respiratory complex I subunits. Although the genetic origin for Leber’s hereditary optic neuropathy was identified about 30 years ago, the underlying pathogenesis is still unclear primarily due to the lack of a relevant system or cell model. Current models are limited to lymphoblasts, fibroblasts, or cybrid cell lines. As the disease phenotype is limited to retinal ganglion cells, induced pluripotent stem cells will serve as an excellent model for studying this tissue-specific disease, elucidating its underlying molecular mechanisms, and identifying novel therapeutic targets. Here, we describe a detailed protocol for the generation of retinal ganglion cells, and also cardiomyocytes for proof of iPSC pluripotency.

Original languageEnglish (US)
Title of host publicationMethods in Molecular Biology
PublisherHumana Press
Pages219-231
Number of pages13
DOIs
StatePublished - 2022

Publication series

NameMethods in Molecular Biology
Volume2549
ISSN (Print)1064-3745
ISSN (Electronic)1940-6029

Keywords

  • Induced pluripotent stem cell
  • LHON
  • Retinal ganglion cells
  • mtDNA

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

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