Published online Apr 26, 2016. doi: 10.4252/wjsc.v8.i4.118
Peer-review started: September 10, 2015
First decision: October 8, 2015
Revised: January 21, 2016
Accepted: February 14, 2016
Article in press: February 16, 2016
Published online: April 26, 2016
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.
Core tip: With the development of human induced pluripotent stem cells (hiPSCs) deriving from patients, we can begin to understand the molecular mechanisms underlying monogenic diseases and consequently identify new drugs for their treatment. hiPSCs can differentiate into many disease-relevant cell types, providing in this way to innovative applications in the field of cell replacement therapy, disease modelling, drug testing and drug discovery.