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Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Stem Cells. Apr 26, 2015; 7(3): 596-604
Published online Apr 26, 2015. doi: 10.4252/wjsc.v7.i3.596
Use of human pluripotent stem cells to study and treat retinopathies
Karim Ben M’Barek, Florian Regent, Christelle Monville
Karim Ben M’Barek, Florian Regent, Christelle Monville, INSERM UMR861, I-Stem, AFM, Genopole Campus 1, 91030 Evry, France
Karim Ben M’Barek, Florian Regent, Christelle Monville, UEVE UMR861, I-Stem, AFM, Genopole Campus 1, 91030 Evry, France
Author contributions: Ben M’Barek K, Regent F and Monville C contributed to this paper.
Conflict-of-interest: I, Christelle Monville, declare no competing commercial, personal, political, intellectual or religious interests in relation to the submitted work.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Christelle Monville, PhD, INSERM UMR861, I-Stem, AFM, 5 rue Henri Desbruères, Genopole Campus 1, 91030 Evry, France. cmonville@istem.fr
Telephone: +33-16-9908528 Fax: +33-16-9908521
Received: September 29, 2014
Peer-review started: October 1, 2014
First decision: October 28, 2014
Revised: November 13, 2014
Accepted: December 29, 2014
Article in press: December 31, 2014
Published online: April 26, 2015
Processing time: 205 Days and 14.1 Hours
Abstract

Human cell types affected by retinal diseases (such as age-related macular degeneration or retinitis pimentosa) are limited in cell number and of reduced accessibility. As a consequence, their isolation for in vitro studies of disease mechanisms or for drug screening efforts is fastidious. Human pluripotent stem cells (hPSCs), either of embryonic origin or through reprogramming of adult somatic cells, represent a new promising way to generate models of human retinopathies, explore the physiopathological mechanisms and develop novel therapeutic strategies. Disease-specific human embryonic stem cells were the first source of material to be used to study certain disease states. The recent demonstration that human somatic cells, such as fibroblasts or blood cells, can be genetically converted to induce pluripotent stem cells together with the continuous improvement of methods to differentiate these cells into disease-affected cellular subtypes opens new perspectives to model and understand a large number of human pathologies, including retinopathies. This review focuses on the added value of hPSCs for the disease modeling of human retinopathies and the study of their molecular pathological mechanisms. We also discuss the recent use of these cells for establishing the validation studies for therapeutic intervention and for the screening of large compound libraries to identify candidate drugs.

Keywords: Drug screening; Human pluripotent stem cells; Disease modeling; Retinitis pigmentosa

Core tip: Human pluripotent stem cells (hPSCs) are usually evoked for their potential for regenerative medicine. However, beside these aspects, novel interests raise from the potential of hPSCs to model human diseases including retinopathies. In this review, we describe how these cells allow the study of the molecular mechanisms leading to some form of retinopathies through the development of retinal specific cell type derived from the differentiation of hPSCs. We also discuss the use of hPSCs cellular models for the validation of gene therapy and for drug screening purpose.