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Scientific Articles

Modelling Duchenne Muscular Dystrophy in MYOD1-Converted Urine-Derived Cells Treated With 3-Deazaneplanocin A Hydrochloride

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source: Scientific Reports

year: 2019

authors: Takizawa H, Hara Y, Mizobe Y, Ohno T, Suzuki S, Inoue K, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Hoshino M, Komaki H, Takeda S, Aoki Y


Duchenne muscular dystrophy (DMD) is a severe muscle disorder characterised by mutations in the DMD gene. Recently, we have completed a phase I study in Japan based on systemic administration of the morpholino antisense that is amenable to exon-53 skipping, successfully. However, to achieve the effective treatment of DMD, in vitro assays on patient muscle cells to screen drugs and patient eligibility before clinical trials are indispensable. Here, we report a novel MYOD1-converted, urine-derived cells (UDCs) as a novel DMD muscle cell model.

We discovered that 3-deazaneplanocin A hydrochloride, a histone methyltransferase inhibitor, could significantly promote MYOGENIN expression and myotube differentiation. We also demonstrated that our system, based on UDCs from DMD patients, could be used successfully to evaluate exon-skipping drugs targeting DMD exons including 44, 50, 51, and 55. This new autologous UDC-based disease modelling could lead to the application of precision medicine for various muscle diseases.

organization: National Center of Neurology and Psychiatry, Japan; Tokyo Medical and Dental University, Japan

DOI: 10.1038/s41598-019-40421-z

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