Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

被引:86
作者
Wiley, Luke A. [1 ]
Burnight, Erin R. [1 ]
Songstad, Allison E. [1 ]
Drack, Arlene V. [1 ]
Mullins, Robert F. [1 ]
Stone, Edwin M. [1 ,2 ]
Tucker, Budd A. [1 ]
机构
[1] Univ Iowa, Stephen A Wynn Inst Vis Res, Dept Ophthalmol & Visual Sci, Iowa City, IA 52242 USA
[2] Univ Iowa, Howard Hughes Med Inst, Iowa City, IA 52242 USA
关键词
Induced pluripotent stem cells; Retinal degeneration; Gene therapy; CRISPR-based genome editing; Cell transplantation; COMPLEMENT FACTOR-H; RECESSIVE RETINITIS-PIGMENTOSA; CEP290/NPHP6 MUTATIONS RESULT; GLUTAMIC-ACID DECARBOXYLASE; MEMBRANE ATTACK COMPLEX; GROWTH-FACTOR SECRETION; VESICLE-LIKE STRUCTURES; MACULAR DEGENERATION; GENE-THERAPY; EFFICIENT GENERATION;
D O I
10.1016/j.preteyeres.2014.10.002
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Vision is the sense that we use to navigate the world around us. Thus it is not surprising that blindness is one of people's most feared maladies. Heritable diseases of the retina, such as age-related macular degeneration and retinitis pigmentosa, are the leading cause of blindness in the developed world, collectively affecting as many as one-third of all people over the age of 75, to some degree. For decades, scientists have dreamed of preventing vision loss or of restoring the vision of patients affected with retinal degeneration through drug therapy, gene augmentation or a cell-based transplantation approach. In this review we will discuss the use of the induced pluripotent stem cell technology to model and develop various treatment modalities for the treatment of inherited retinal degenerative disease. We will focus on the use of iPSCs for interrogation of disease pathophysiology, analysis of drug and gene therapeutics and as a source of autologous cells for cell transplantation and replacement. (C) 2014 Published by Elsevier Ltd.
引用
收藏
页码:15 / 35
页数:21
相关论文
共 211 条
[31]   Multiplex Genome Engineering Using CRISPR/Cas Systems [J].
Cong, Le ;
Ran, F. Ann ;
Cox, David ;
Lin, Shuailiang ;
Barretto, Robert ;
Habib, Naomi ;
Hsu, Patrick D. ;
Wu, Xuebing ;
Jiang, Wenyan ;
Marraffini, Luciano A. ;
Zhang, Feng .
SCIENCE, 2013, 339 (6121) :819-823
[32]   CEP290, a Gene with Many Faces: Mutation Overview and Presentation of CEP290base [J].
Coppieters, Frauke ;
Lefever, Steve ;
Leroy, Bart P. ;
De Baere, Elfride .
HUMAN MUTATION, 2010, 31 (10) :1097-1108
[33]   CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content [J].
Craige, Branch ;
Tsao, Che-Chia ;
Diener, Dennis R. ;
Hou, Yuqing ;
Lechtreck, Karl-Ferdinand ;
Rosenbaum, Joel L. ;
Witman, George B. .
JOURNAL OF CELL BIOLOGY, 2010, 190 (05) :927-940
[34]   Mechanisms of leukocyte migration across the blood-retina barrier [J].
Crane, Isabel J. ;
Liversidge, Janet .
SEMINARS IN IMMUNOPATHOLOGY, 2008, 30 (02) :165-177
[35]   SUBRETINAL DRUSENOID DEPOSITS IN NON-NEOVASCULAR AGE-RELATED MACULAR DEGENERATION Morphology, Prevalence, Topography, and Biogenesis Model [J].
Curcio, Christine A. ;
Messinger, Jeffrey D. ;
Sloan, Kenneth R. ;
McGwin, Gerald ;
Medeiros, Nancy E. ;
Spaide, Richard F. .
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2013, 33 (02) :265-276
[36]   ROLE OF PERICORNEAL PAPILLARY STRUCTURE IN RENEWAL OF CORNEAL EPITHELIUM [J].
DAVANGER, M ;
EVENSEN, A .
NATURE, 1971, 229 (5286) :560-&
[37]   Transplanted terminally differentiated induced pluripotent stem cells are accepted by immune mechanisms similar to self-tolerance [J].
de Almeida, Patricia E. ;
Meyer, Everett H. ;
Kooreman, Nigel G. ;
Diecke, Sebastian ;
Dey, Devaveena ;
Sanchez-Freire, Veronica ;
Hu, Shijun ;
Ebert, Antje ;
Odegaard, Justin ;
Mordwinkin, Nicholas M. ;
Brouwer, Thomas P. ;
Lo, David ;
Montoro, Daniel T. ;
Longaker, Michael T. ;
Negrin, Robert S. ;
Wu, Joseph C. .
NATURE COMMUNICATIONS, 2014, 5
[38]   Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect [J].
de los Reyes, E ;
Dyken, PR ;
Phillips, P ;
Brodsky, M ;
Bates, S ;
Glasier, C ;
Mrak, RE .
JOURNAL OF CHILD NEUROLOGY, 2004, 19 (01) :42-46
[39]   Adapting human pluripotent stem cells to high-throughput and high-content screening [J].
Desbordes, Sabrina C. ;
Studer, Lorenz .
NATURE PROTOCOLS, 2013, 8 (01) :111-130
[40]   Mammalian Base Excision Repair: the Forgotten Archangel [J].
Dianov, Grigory L. ;
Huebscher, Ulrich .
NUCLEIC ACIDS RESEARCH, 2013, 41 (06) :3483-3490