Investigation of Rett syndrome using pluripotent stem cells. Issue 11 (13th September 2013)

• Record Type: Journal Article
• Authors: Dajani, Rana; Koo, Sung‐Eun; Sullivan, Gareth J.; Park, In‐Hyun
• Is Part Of: Journal of cellular biochemistry. Volume 114:Issue 11(2013:Nov.)
• Page Start: 2446
• Page End: 2453
• Publication Date: 2013-09-13
• Subjects: Cytochemistry -- Periodicals; 572
• DOI: 10.1002/jcb.24597
• Languages: English
• ISSNs: 0730-2312

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>ABSTRACT</title> <sec id="jcb24597-sec-0001" sec-type="section"> <p>Rett syndrome (RTT) is one of most prevalent female neurodevelopmental disorders. De novo mutations in X‐linked <italic>MECP2</italic> are mostly responsible for RTT. Since the identification of MeCP2 as the underlying cause of RTT, murine models have contributed to understanding the pathophysiology of RTT and function of MeCP2. Reprogramming is a procedure to produce induced pluripotent stem cells (iPSCs) by overexpression of four transcription factors. iPSCs obtain similar features as embryonic stem cells and are capable of self‐renewing and differentiating into cells of all three layers. iPSCs have been utilized in modeling human diseases in vitro. Neurons differentiated from RTT‐iPSCs showed the recapitulation of RTT phenotypes. Despite the early success, genetic and epigenetic instability upon reprogramming and ensuing maintenance of iPSCs raise concerns in using RTT‐iPSCs as an accurate in vitro model. Here, we update the current iPSC‐based RTT modeling, and its concerns and challenges. J. Cell. Biochem. 114: 2446–2453, 2013. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>