scholarly journals Contractile Activity of Myotubes Derived from Human Induced Pluripotent Stem Cells: A Model of Duchenne Muscular Dystrophy

Cells ◽  
2021 ◽  
Vol 10 (10) ◽  
pp. 2556
Author(s):  
Kantaro Yoshioka ◽  
Akira Ito ◽  
Masanobu Horie ◽  
Kazushi Ikeda ◽  
Sho Kataoka ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Contractile Activity ◽  
Dystrophin Gene ◽  
Ips Cells ◽  
Electrical Pulse ◽  
Electrical Pulse Stimulation ◽  
Induced Pluripotent ◽  
Pulse Stimulation

Duchenne muscular dystrophy (DMD) is a genetic disorder that results from deficiency of the dystrophin protein. In recent years, DMD pathological models have been created using induced pluripotent stem (iPS) cells derived from DMD patients. In addition, gene therapy using CRISPR-Cas9 technology to repair the dystrophin gene has been proposed as a new treatment method for DMD. However, it is not known whether the contractile function of myotubes derived from gene-repaired iPS cells can be restored. We therefore investigated the maturation of myotubes in electrical pulse stimulation culture and examined the effect of gene repair by observing the contractile behaviour of myotubes. The contraction activity of myotubes derived from dystrophin-gene repaired iPS cells was improved by electrical pulse stimulation culture. The iPS cell method used in this study for evaluating muscle contractile activity is a useful technique for analysing the mechanism of hereditary muscular disease pathogenesis and for evaluating the efficacy of new drugs and gene therapy.

SGT-001 Micro-dystrophin gene therapy for Duchenne muscular dystrophy

2017 ◽  
Vol 27 ◽  
pp. S188 ◽  
Author(s):  
J. Schneider ◽  
J. Gonzalez ◽  
K. Brown ◽  
D. Golebiowski ◽  
V. Ricotti ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dystrophin Gene

scholarly journals CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells

2019 ◽  
Vol 5 (3) ◽  
pp. eaav4324 ◽  
Author(s):  
Yi-Li Min ◽  
Hui Li ◽  
Cristina Rodriguez-Caycedo ◽  
Alex A. Mireault ◽  
Jian Huang ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Gene Editing ◽  
Dystrophin Gene ◽  
Gene Correction ◽  
Reading Frame ◽  
Deletion Mutations ◽  
Significant Step ◽  
Induced Pluripotent

Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD), which is characterized by lethal degeneration of cardiac and skeletal muscles. Mutations that delete exon 44 of the dystrophin gene represent one of the most common causes of DMD and can be corrected in ~12% of patients by editing surrounding exons, which restores the dystrophin open reading frame. Here, we present a simple and efficient strategy for correction of exon 44 deletion mutations by CRISPR-Cas9 gene editing in cardiomyocytes obtained from patient-derived induced pluripotent stem cells and in a new mouse model harboring the same deletion mutation. Using AAV9 encoding Cas9 and single guide RNAs, we also demonstrate the importance of the dosages of these gene editing components for optimal gene correction in vivo. Our findings represent a significant step toward possible clinical application of gene editing for correction of DMD.

scholarly journals Challenge toward gene-therapy using iPS cells for Duchenne muscular dystrophy

2012 ◽  
Vol 52 (11) ◽  
pp. 1139-1142
Author(s):  
Mitsuo Oshimura ◽  
Yasuhiro Kazuki ◽  
Narumi Uno
Keyword(s):  
Gene Therapy ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Ips Cells
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