Novel Insights into Disease Modeling Using Induced Pluripotent Stem Cells
Novel Insights into Disease Modeling Using Induced Pluripotent Stem Cells
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DOI：
10.1248/bpb.b12-00960
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发表时间：
2013-02-01
影响因子：
2
通讯作者：
Fukuda, Keiichi
中科院分区：
文献类型：
--
作者：
Egashira, Toru;Yuasa, Shinsuke;Fukuda, Keiichi
诱导多能干细胞（iPSC）技术在再生医学和疾病分析中具有建立新的治疗方法的巨大潜力。尽管使用iPSC衍生细胞的细胞疗法在临床应用之前仍有许多障碍需要克服，但使用患者特异性iPSC的疾病分析可能在不久的将来具有实际用途。有几份报告称，患者特异性iPSC衍生的细胞已经概括了多种疾病的表观细胞表型。此外，一些研究表明，有可能通过体外检查患者特异性iPSC衍生细胞来发现有效的新药并阐明疾病发病机制。我们最近报道，iPSCs可以成为诊断新突变患者的工具。对于具有未表征的基因突变的长QT综合征患者的明确诊断，我们通过对患者特异性iPSC衍生的心肌细胞的多方面分析，成功地阐明了患者的细胞电生理特征和疾病表型的分子机制。在这篇综述中，我们重点介绍了使用患者特异性iPSCs进行疾病建模的概念和实践问题，并讨论了该研究领域的未来发展方向。
Induced pluripotent stem cell (iPSC) technology has great potential to establish novel therapeutic approaches in regenerative medicine and disease analysis. Although cell therapy using iPSC-derived cells still has many hurdles to overcome before clinical applications, disease analysis using patient-specific iPSCs may be of practical use in the near future. There are several reports that patient-specific iPSC-derived cells have recapitulated the apparent cellular phenotypes of a wide variety of diseases. Moreover, some studies revealed that it could be possible to discover effective new drugs and to clarify disease pathogenesis by examination of patient-specific iPSC-derived cells in vitro. We have recently reported that iPSCs can be a diagnostic tool in a patient with a novel mutation. For definitive diagnosis in a patient with long QT syndrome who had an uncharacterized genetic mutation, we succeeded in clarifying the patient's cellular electrophysiologic characteristics and the molecular mechanism underlying the disease phenotype through the multifaceted analyses of patient-specific iPSC-derived cardiomyocytes. In this review, we focus on the conceptual and practical issues in disease modeling using patient-specific iPSCs and discuss future directions in this research field.