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遗传性视神经病变：基于诱导多能干细胞的 2D/3D 方法。

Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches.

机构信息

Grupo de Investigación Traslacional con Células iPS, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), 28041 Madrid, Spain.

Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12), 28041 Madrid, Spain.

出版信息

Genes (Basel). 2021 Jan 18;12(1):112. doi: 10.3390/genes12010112.

DOI:10.3390/genes12010112
PMID:33477675
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7831942/
Abstract

Inherited optic neuropathies share visual impairment due to the degeneration of retinal ganglion cells (RGCs) as the hallmark of the disease. This group of genetic disorders are caused by mutations in nuclear genes or in the mitochondrial DNA (mtDNA). An impaired mitochondrial function is the underlying mechanism of these diseases. Currently, optic neuropathies lack an effective treatment, and the implementation of induced pluripotent stem cell (iPSC) technology would entail a huge step forward. The generation of iPSC-derived RGCs would allow faithfully modeling these disorders, and these RGCs would represent an appealing platform for drug screening as well, paving the way for a proper therapy. Here, we review the ongoing two-dimensional (2D) and three-dimensional (3D) approaches based on iPSCs and their applications, taking into account the more innovative technologies, which include tissue engineering or microfluidics.

摘要

遗传性视神经病变由于视网膜神经节细胞（RGC）的退化而导致视力损害，这是疾病的标志。这些遗传性疾病是由核基因或线粒体 DNA（mtDNA）中的突变引起的。线粒体功能障碍是这些疾病的潜在机制。目前，视神经病变缺乏有效的治疗方法，而诱导多能干细胞（iPSC）技术的实施将是一个巨大的进步。iPSC 衍生的 RGC 的产生将允许对这些疾病进行精确建模，并且这些 RGC 也将成为药物筛选的一个有吸引力的平台，为合理的治疗铺平道路。在这里，我们回顾了基于 iPSC 的正在进行的二维（2D）和三维（3D）方法及其应用，同时考虑了包括组织工程或微流控技术在内的更具创新性的技术。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8447/7831942/097b5e9eb6ef/genes-12-00112-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8447/7831942/b9ab7d8223ed/genes-12-00112-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8447/7831942/097b5e9eb6ef/genes-12-00112-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8447/7831942/b9ab7d8223ed/genes-12-00112-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8447/7831942/097b5e9eb6ef/genes-12-00112-g002.jpg

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本文引用的文献

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Sci Transl Med. 2020 Dec 9;12(573). doi: 10.1126/scitranslmed.aaz7423.
2
Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).生成携带与Leber遗传性视神经病变（LHON）相关的MT-ND1基因m.G3460A纯合突变的人诱导多能干细胞系FINCBi001-A。
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Dual SMAD inhibition and Wnt inhibition enable efficient and reproducible differentiations of induced pluripotent stem cells into retinal ganglion cells.
视网膜神经节细胞移植：克服功能整合挑战的方法。
Cells. 2021 Jun 8;10(6):1426. doi: 10.3390/cells10061426.
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Leber Hereditary Optic Neuropathy: Review of Treatment and Management.Leber遗传性视神经病变：治疗与管理综述
Front Neurol. 2021 May 26;12:651639. doi: 10.3389/fneur.2021.651639. eCollection 2021.
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Sci Rep. 2020 Jul 16;10(1):11828. doi: 10.1038/s41598-020-68811-8.
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HLA-Matched Allogeneic iPS Cells-Derived RPE Transplantation for Macular Degeneration.人 HLA 配型全相合的诱导多能干细胞源性视网膜色素上皮细胞移植治疗黄斑变性
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