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Modeling autosomal dominant retinitis pigmentosa by using patient-specific retinal organoids with a class-3 RHO mutation

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收录情况： ◇ SCIE

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机构： [1]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China

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关键词： Retinal organoids RHO Rhodopsin Rods Retinitis pigmentosa

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Rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP) causes progressive vision loss and is potentially incurable, accounting for 25% of adRP cases. Studies on RHO-adRP mechanism were at large based on the biochemical and cellular properties, especially class-3. Nonetheless, the absence of an appropriate model for class-3 RHO-adRP has impeded comprehensive exploration. Here, induced pluripotent stem cells (iPSCs) were generated from a healthy control and two sibling RP patients with the same point mutation, c.403C>T (p.R135W). The first three-dimensional (3D) retinal organoid model of a class-3 RHO point mutation from patient-derived iPSCs was generated. Significant defects were observed in rod photoreceptors in terms of localization, morphology, transcriptional profiling and single cell resolution, to better understand the human disease resulting from RHO mutations from a developmental perspective. This first human model of class-3 RHO-adRP provides a representation of patient's retina in vitro and displays features of RHO-adRP retinal organoids relevant for therapeutic development.Copyright © 2024 Elsevier Ltd. All rights reserved.

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出版当年[2023]版：

大类 | 2 区医学

小类 | 2 区眼科学

最新[2023]版：

大类 | 2 区医学

小类 | 2 区眼科学

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出版当年[2022]版：

Q2 OPHTHALMOLOGY

最新[2023]版：

Q1 OPHTHALMOLOGY

影响因子： 3 最新[2023版] 3.3 最新五年平均 3.4 出版当年[2022版] 3.6 出版当年五年平均 3.77 出版前一年[2021版] 3 出版后一年[2023版]

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第一作者机构： [1]Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China

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相关文献

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