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Disease Modeling and Drug Development with DM1 Patient-Derived iPS Cells

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Myotonic Dystrophy

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Abstract

Since generation of induced pluripotent stem cells (iPSCs) was first reported in human in 2007, application of the technology to generate iPSCs has been applied to basic research on pathogenic mechanism of human diseases as well as development of regeneration therapy. For the former application, iPSCs generated from cell/tissue samples obtained from patients, particularly of inherited disorders, have been used for modeling diseases in cellular levels and drug screening by using the disease model developed with iPSCs generated from patient samples. Among a number of genetically inherited disorders, type 1 myotonic dystrophy (DM1) is well suitable for disease modeling studies using iPSCs derived from patients’ cells/tissues. In this chapter, previous research applications of iPSCs generated from DM1 patients’ cells/tissues are reviewed, and potentials of DM1 patient-derived iPSCs as a powerful tool for DM1 pathogenesis research and drug development against DM1 are discussed.

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Authors and Affiliations

  1. Department of Peripheral Nervous System Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan

    Toshiyuki Araki & Masayoshi Kamon

  2. Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan

    Hidetoshi Sakurai

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  1. Toshiyuki Araki
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  2. Masayoshi Kamon
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  3. Hidetoshi Sakurai
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Correspondence to Toshiyuki Araki .

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Editors and Affiliations

  1. Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Osaka, Japan

    Masanori P. Takahashi

  2. Department of Neurology, National Hospital Organization Toneyama National Hospital, Osaka, Japan

    Tsuyoshi Matsumura

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Araki, T., Kamon, M., Sakurai, H. (2018). Disease Modeling and Drug Development with DM1 Patient-Derived iPS Cells. In: Takahashi, M., Matsumura, T. (eds) Myotonic Dystrophy. Springer, Singapore. https://doi.org/10.1007/978-981-13-0508-5_12

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  • DOI: https://doi.org/10.1007/978-981-13-0508-5_12

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