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莱伯遗传性视神经病变诱导多能干细胞模型中的线粒体替代

Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy.

作者信息

Wong Raymond C B, Lim Shiang Y, Hung Sandy S C, Jackson Stacey, Khan Shahnaz, Van Bergen Nicole J, De Smit Elisabeth, Liang Helena H, Kearns Lisa S, Clarke Linda, Mackey David A, Hewitt Alex W, Trounce Ian A, Pébay Alice

机构信息

Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.

Department of Surgery, Ophthalmology, the University of Melbourne, Melbourne, Australia.

出版信息

Aging (Albany NY). 2017 Apr;9(4):1341-1350. doi: 10.18632/aging.101231.

DOI:10.18632/aging.101231
PMID:28455970
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5425131/
Abstract

Cybrid technology was used to replace Leber hereditary optic neuropathy (LHON) causing mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA, and mutation-free induced pluripotent stem cells (iPSCs) were generated subsequently. Retinal ganglion cell (RGC) differentiation demonstrates increased cell death in LHON-RGCs and can be rescued in cybrid corrected RGCs.

摘要

采用胞质杂种技术，用野生型线粒体DNA取代来自患者特异性成纤维细胞的导致线粒体DNA（mtDNA）突变的Leber遗传性视神经病变（LHON），随后生成无突变的诱导多能干细胞（iPSC）。视网膜神经节细胞（RGC）分化表明LHON-RGC中细胞死亡增加，而在胞质杂种校正的RGC中这种情况可以得到挽救。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3536/5425131/87a47f7d7361/aging-09-1341-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3536/5425131/bdddfe0f66b4/aging-09-1341-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3536/5425131/87a47f7d7361/aging-09-1341-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3536/5425131/bdddfe0f66b4/aging-09-1341-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3536/5425131/87a47f7d7361/aging-09-1341-g002.jpg

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1
Enriched retinal ganglion cells derived from human embryonic stem cells.人胚胎干细胞来源的富集视网膜神经节细胞。
Sci Rep. 2016 Aug 10;6:30552. doi: 10.1038/srep30552.
2
Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs.通过使用线粒体锌指核酸酶（mtZFNs）进行迭代或动态剂量控制治疗，近乎完全消除突变型线粒体DNA（mtDNA）。
Nucleic Acids Res. 2016 Sep 19;44(16):7804-16. doi: 10.1093/nar/gkw676. Epub 2016 Jul 27.
3
Participant understanding and recall of informed consent for induced pluripotent stem cell biobanking.
线粒体移植：一种治疗视网膜退行性疾病的有前景的策略。
Neural Regen Res. 2025 Dec 1;20(12):3370-3387. doi: 10.4103/NRR.NRR-D-24-00851. Epub 2024 Dec 7.
4
Hereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells.遗传性视神经病变：生物材料与诱导多能干细胞相互作用的系统综述
Bioengineering (Basel). 2024 Jan 3;11(1):52. doi: 10.3390/bioengineering11010052.
5
The Potential and Application of iPSCs in Gene and Cell Therapy for Retinopathies and Optic Neuropathies.诱导多能干细胞在视网膜病变和视神经病变的基因与细胞治疗中的潜力及应用
Acta Naturae. 2023 Oct-Dec;15(4):56-64. doi: 10.32607/actanaturae.25454.
6
Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations.诱导多能干细胞：源于线粒体 DNA 突变的人类疾病的体外模型。
J Biomed Sci. 2023 Sep 22;30(1):82. doi: 10.1186/s12929-023-00967-7.
7
Mitochondrial transplantation: an overview of a promising therapeutic approach.线粒体移植：一种有前途的治疗方法概述。
BMB Rep. 2023 Sep;56(9):488-495. doi: 10.5483/BMBRep.2023-0098.
8
The potential for mitochondrial therapeutics in the treatment of primary open-angle glaucoma: a review.线粒体疗法在原发性开角型青光眼治疗中的潜力：综述
Front Physiol. 2023 Aug 2;14:1184060. doi: 10.3389/fphys.2023.1184060. eCollection 2023.
9
Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.遗传性视神经病变的基因治疗的现状与未来。
Cells. 2023 Aug 7;12(15):2013. doi: 10.3390/cells12152013.
10
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诱导多能干细胞生物样本库知情同意书的参与者理解与回忆
Cell Tissue Bank. 2016 Sep;17(3):449-56. doi: 10.1007/s10561-016-9563-8. Epub 2016 Jun 14.
4
Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies.视神经病变中的新兴线粒体治疗靶点。
Pharmacol Ther. 2016 Sep;165:132-52. doi: 10.1016/j.pharmthera.2016.06.004. Epub 2016 Jun 8.
5
Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.走向原核移植技术预防线粒体DNA疾病的临床应用。
Nature. 2016 Jun 16;534(7607):383-6. doi: 10.1038/nature18303. Epub 2016 Jun 8.
6
Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells.重编程为人类诱导多能干细胞过程中线粒体呼吸缺陷的研究。
Aging (Albany NY). 2016 May;8(5):945-57. doi: 10.18632/aging.100950.
7
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MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases.线粒体转录激活样效应因子核酸酶（MitoTALEN）：一种降低线粒体疾病中突变型线粒体DNA负荷并恢复氧化磷酸化功能的通用方法。
Mol Ther. 2015 Oct;23(10):1592-9. doi: 10.1038/mt.2015.126. Epub 2015 Jul 10.
9
Efficient generation of integration-free human induced pluripotent stem cells from keratinocytes by simple transfection of episomal vectors.通过简单转染附加体载体从角蛋白细胞高效生成无整合的人类诱导多能干细胞。
Stem Cells Transl Med. 2014 Jul;3(7):787-91. doi: 10.5966/sctm.2013-0036. Epub 2014 Jun 5.
10
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.高效的线粒体生物发生驱动了莱伯遗传性视神经病变的不完全外显率。
Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24.