ArticleStem cell research & therapy2016
Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets.
Article in Stem cell research & therapy, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 40 citations in OpenAlex.
- Generation of four human pluripotent stem cell lines harboring OPA1-related optic atrophy variant.Stem cell research · 2025Article
- Biomedical applications of organoids in genetic diseases.Medical review (2021) · 2025Review
- Derivation and Characterization of IsogenicCells · 2025Article
- Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in theInternational journal of molecular sciences · 2024Article
- Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.Stem cell reports · 2024Article
- Hereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells.Bioengineering (Basel, Switzerland) · 2024Review
- Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinctFrontiers in genetics · 2023Article
- Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.Human molecular genetics · 2022Article
- Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders.Membranes · 2022Review
- Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?International journal of molecular sciences · 2021Review
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- Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis.Frontiers in neurology · 2021Review
- Role of In Vitro Models for Development of Ophthalmic Delivery Systems.Critical reviews in therapeutic drug carrier systems · 2021Review
- Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.Translational vision science & technology · 2020Article
- Retinal Tissue Bioengineering, Materials and Methods for the Treatment of Glaucoma.Tissue engineering and regenerative medicine · 2020Review
- Recapitulating developmental mechanisms for retinal regeneration.Progress in retinal and eye research · 2020Review
- Generation of a Retina Reporter hiPSC Line to Label Progenitor, Ganglion, and Photoreceptor Cell Types.Translational vision science & technology · 2020Article
- Generation of a Transplantable Population of Human iPSC-Derived Retinal Ganglion Cells.Frontiers in cell and developmental biology · 2020Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundMany retinal degenerative diseases are caused by the loss of retinal ganglion cells (RGCs). Autosomal dominant optic atrophy is the most common hereditary optic atrophy disease and is characterized by central vision loss and degeneration of RGCs. Currently, there is no effective treatment for this group of diseases. However, stem cell therapy holds great potential for replacing lost RGCs of patients. Compared with embryonic stem cells, induced pluripotent stem cells (iPSCs) can be derived from adult somatic cells, and they are associated with fewer ethical concerns and are less prone to immune rejection. In addition, patient-derived iPSCs may provide us with a cellular model for studying the pathogenesis and potential therapeutic agents for optic atrophy.
methodsIn this study, iPSCs were obtained from patients carrying an OPA1 mutation (OPA1 (+/-) -iPSC) that were diagnosed with optic atrophy. These iPSCs were differentiated into putative RGCs, which were subsequently characterized by using RGC-specific expression markers BRN3a and ISLET-1.
resultsMutant OPA1 (+/-) -iPSCs exhibited significantly more apoptosis and were unable to efficiently differentiate into RGCs. However, with the addition of neural induction medium, Noggin, or estrogen, OPA1 (+/-) -iPSC differentiation into RGCs was promoted.
conclusionsOur results suggest that apoptosis mediated by OPA1 mutations plays an important role in the pathogenesis of optic atrophy, and both noggin and β-estrogen may represent potential therapeutic agents for OPA1-related optic atrophy.
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Registered trials
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