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Received: 2019-04-11

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Journal of Zhejiang University SCIENCE B 2019 Vol.20 No.5 P.449-456

http://doi.org/10.1631/jzus.B1900196


Cell models and drug discovery for mitochondrial diseases


Author(s):  Shuang-Yi Hu, Qian-Qian Zhuang, Yue Qiu, Xu-Fen Zhu, Qing-Feng Yan

Affiliation(s):  Institute of Genetics and Regenerative Biology, College of Life Sciences, Zhejiang University, Hangzhou 310058, China; more

Corresponding email(s):   qfyan@zju.edu.cn, xufenzhu@zju.edu.cn

Key Words:  Mitochondrial diseases, Mitochondrial DNA, Cell model, Drug discovery


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Shuang-Yi Hu, Qian-Qian Zhuang, Yue Qiu, Xu-Fen Zhu, Qing-Feng Yan. Cell models and drug discovery for mitochondrial diseases[J]. Journal of Zhejiang University Science B, 2019, 20(5): 449-456.

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pages="449-456",
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publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1900196"
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T1 - Cell models and drug discovery for mitochondrial diseases
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A1 - Qian-Qian Zhuang
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PB - Zhejiang University Press & Springer
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DOI - 10.1631/jzus.B1900196


Abstract: 
Mitochondrion is a semi-autonomous organelle, important for cell energy metabolism, apoptosis, the production of reactive oxygen species (ROS), and Ca2+ homeostasis. mitochondrial DNA (mtDNA) mutation is one of the primary factors in mitochondrial disorders. Though much progress has been made, there remain many difficulties in constructing cell models for mitochondrial diseases. This seriously restricts studies related to targeted drug discovery and the mechanism and therapy for such diseases. Here we summarize the characteristics of patient-specific immortalized lymphoblastoid cells, fibroblastoid cells, cytoplasmic hybrid (cybrid) cell lines, and induced pluripotent stem cells (iPSCs)-derived differentiation cells in the study of mitochondrial disorders, as well as offering discussion of roles and advances of these cell models, particularly in the screening of drugs.

线粒体疾病细胞模型及其药物筛选

概要:线粒体是一种半自主性细胞器,不仅是细胞能量代谢的重要场所,而且与细胞凋亡、活性氧(ROS)产生和Ca2+稳态等密切相关.线粒体DNA(mtDNA)突变是线粒体疾病发生的重要原因.当前,线粒体疾病细胞模型构建仍存在许多困难,严重制约线粒体疾病的致病机制、靶向药物筛选和临床治疗等研究.本文将重点介绍线粒体疾病细胞模型的构建和特征,包括患者特异性永生化淋巴细胞模型、成纤维细胞模型及其衍生的转线粒体细胞模型和诱导多能干细胞及其定向分化细胞模型,以及这些细胞模型在线粒体药物筛选中的作用和研究进展.
关键词:线粒体疾病;线粒体DNA;细胞模型;药物筛选

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article

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