Cell models and drug discovery for mitochondrial diseases

被引：18

作者：

Hu, Shuang-yi ^{[1
]}

Zhuang, Qian-qian ^{[1
]}

Qiu, Yue ^{[1
]}

Zhu, Xu-fen ^{[1
]}

Yan, Qing-feng ^{[1
,2
,3
]}

机构：

[1] Zhejiang Univ, Coll Life Sci, Inst Genet & Regenerat Biol, Hangzhou 310058, Zhejiang, Peoples R China

[2] Zhejiang Univ, Affiliated Hosp 1, Sch Med, Dept Pediat, Hangzhou 310003, Zhejiang, Peoples R China

[3] Key Lab Cell & Gene Engn Zhejiang Prov, Hangzhou 310058, Zhejiang, Peoples R China

来源：

JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B | 2019年 / 20卷 / 05期

基金：

中国国家自然科学基金;

关键词：

Mitochondrial diseases; Mitochondrial DNA; Cell model; Drug discovery; PLURIPOTENT STEM-CELLS; FEMALE-PATIENT; DNA; GENERATION; MUTATION; LINES; PATHOPHYSIOLOGY; CARDIOMYOCYTES; FIBROBLASTS; INHIBITION;

D O I：

10.1631/jzus.B1900196

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：449 / 456

页数：8

共 44 条

[1] Mitochondrial protein sorting as a therapeutic target for ATP synthase disorders [J].

Aiyar, Raeka S. ;

Bohnert, Maria ;

Duvezin-Caubet, Stephane ;

Voisset, Cecile ;

Gagneur, Julien ;

Fritsch, Emilie S. ;

Couplan, Elodie ;

von der Malsburg, Karina ;

Funaya, Charlotta ;

Soubigou, Flavie ;

Courtin, Florence ;

Suresh, Sundari ;

Kucharczyk, Roza ;

Evrard, Justine ;

Antony, Claude ;

St Onge, Robert P. ;

Blondel, Marc ;

di Rago, Jean-Paul ;

van der Laan, Martin ;

Steinmetz, Lars M. .

NATURE COMMUNICATIONS, 2014, 5

[2] EBV immortalization of human B lymphocytes separated from small volumes of cryo-preserved whole blood [J].

Amoli, M. M. ;

Carthy, D. ;

Platt, H. ;

Ollier, W. E. R. .

INTERNATIONAL JOURNAL OF EPIDEMIOLOGY, 2008, 37 :41-45

[3]

[Anonymous], 2016, NATURE NEWS, DOI DOI 10.1038/NATURE.2016.20849

[4] Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations [J].

Barrow, Joeva J. ;

Balsa, Eduardo ;

Verdeguer, Francisco ;

Tavares, Clint D. J. ;

Soustek, Meghan S. ;

Hollingsworth, Louis R. ;

Jedrychowski, Mark ;

Vogel, Rutger ;

Paulo, Joao A. ;

Smeitink, Jan ;

Gygi, Steve P. ;

Doench, John ;

Root, David E. ;

Puigserver, Pere .

MOLECULAR CELL, 2016, 64 (01) :163-175

[5] A functionally characterized test set of human induced pluripotent stem cells [J].

Boulting, Gabriella L. ;

Kiskinis, Evangelos ;

Croft, Gist F. ;

Amoroso, Mackenzie W. ;

Oakley, Derek H. ;

Wainger, Brian J. ;

Williams, Damian J. ;

Kahler, David J. ;

Yamaki, Mariko ;

Davidow, Lance ;

Rodolfa, Christopher T. ;

Dimos, John T. ;

Mikkilineni, Shravani ;

MacDermott, Amy B. ;

Woolf, Clifford J. ;

Henderson, Christopher E. ;

Wichterle, Hynek ;

Eggan, Kevin .

NATURE BIOTECHNOLOGY, 2011, 29 (03) :279-U147

[6] Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome [J].

Camara, Yolanda ;

Gonzalez-Vioque, Emiliano ;

Scarpelli, Mauro ;

Torres-Torronteras, Javier ;

Caballero, Andrea ;

Hirano, Michio ;

Marti, Ramon .

HUMAN MOLECULAR GENETICS, 2014, 23 (09) :2459-2467

[7] Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion [J].

Cherry, Anne B. C. ;

Gagne, Katelyn E. ;

Mcloughlin, Erin M. ;

Baccei, Anna ;

Gorman, Bryan ;

Hartung, Odelya ;

Miller, Justine D. ;

Zhang, Jin ;

Zon, Rebecca L. ;

Ince, Tan A. ;

Neufeld, Ellis J. ;

Lerou, Paul H. ;

Fleming, Mark D. ;

Daley, George Q. ;

Agarwal, Suneet .

STEM CELLS, 2013, 31 (07) :1287-1297

[8] Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery [J].

Chin R.M. ;

Panavas T. ;

Brown J.M. ;

Johnson K.K. .

BMC Research Notes, 11 (1)

[9] Generation of two isogenic human induced pluripotent stem cell lines from a 15 year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA [J].

Chou, Shih-Jie ;

Ko, Yu-Ling ;

Yang, Yu-Hsuan ;

Yarmishyn, Aliaksandr A. ;

Wu, Yu-Ting ;

Chen, Chien-Tsun ;

Lee, Hsin-Chen ;

Wei, Yau-Huei ;

Chiou, Shih-Hwa .

STEM CELL RESEARCH, 2018, 30 :201-205

[10] Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome [J].

Chou, Shih-Jie ;

Tseng, Wei-Lien ;

Chen, Chien-Tsun ;

Lai, Yu-Fen ;

Chien, Chian-Shiu ;

Chang, Yuh-Lih ;

Lee, Hsin-Chen ;

Wei, Yau-Huei ;

Chiou, Shih-Hwa .

SCIENTIFIC REPORTS, 2016, 6

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