Human induced pluripotent stem cells for monogenic disease modelling and therapy
Paola Spitalieri ; Valentina Rosa Talarico ; Michela Murdocca ; et al. ; - ASI Sponsor
Jul - 2016
DOI: 10.4252/wjsc.v8.i4.118

journal : World Journal of Stem Cells

Volume : 8 ; Issue : 4
type: Article Journal

Recent and advanced protocols are now available to derive human induced pluripotent stem cells (hiPSCs) from patients affected by genetic diseases. No curative treatments are available for many of these diseases; thus, hiPSCs represent a major impact on patient’ health. hiPSCs represent a valid model for the in vitro study of monogenic diseases, together with a better comprehension of the pathogenic mechanisms of the pathology, for both cell and gene therapy protocol applications. Moreover, these pluripotent cells represent a good opportunity to test innovative pharmacological treatments focused on evaluating the efficacy and toxicity of novel drugs. Today, innovative gene therapy protocols, especially gene editing-based, are being developed, allowing the use of these cells not only as in vitro disease models but also as an unlimited source of cells useful for tissue regeneration and regenerative medicine, eluding ethical and immune rejection problems. In this review, we will provide an up-to-date of modelling monogenic disease by using hiPSCs and the ultimate applications of these in vitro models for cell therapy. We consider and summarize some peculiar aspects such as the type of parental cells used for reprogramming, the methods currently used to induce the transcription of the reprogramming factors, and the type of iPSC-derived differentiated cells, relating them to the genetic basis of diseases and to their inheritance model.

keywords : Human induced pluripotent stem cells, Gene therapy, Monogenic diseases, Gene editing, Foetal cells, Reprogramming techniques, Differentiation

Notes : "Supported by Agenzia Spaziale Italiana (ASI), CoReA, No. 2013-084-R.0."