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National Center of Neurology and Psychiatry

4 ARTICLES PUBLISHED IN JoVE

Medicine

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Bailey Miskew Nichols^*1, Yoshitsugu Aoki^*2, Mutsuki Kuraoka², Joshua J.A. Lee¹, Shin'ichi Takeda², Toshifumi Yokota¹

¹Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, ²Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry

Exon skipping is currently a most promising therapeutic option for Duchenne muscular dystrophy (DMD). To expand the applicability for DMD patients and to optimize the stability/function of the resulting truncated dystrophin proteins, a multi-exon skipping approach using cocktail antisense oligonucleotides was developed and we demonstrated systemic dystrophin rescue in a dog model.

Neuroscience

Chronic Implantation of Whole-cortical Electrocorticographic Array in the Common Marmoset

Misako Komatsu¹, Takaaki Kaneko^2,3, Hideyuki Okano^2,3, Noritaka Ichinohe^1,4

¹Laboratory for Molecular Analysis of Higher Brain Function, RIKEN Center for Brain Science, ²Laboratory for Marmoset Neural Architecture, RIKEN Center for Brain Science, ³Department of Physiology, Keio University School of Medicine, ⁴Department of Ultrastructural Research, National Center of Neurology and Psychiatry

We have developed a whole-cortical electrocorticographic array for the common marmoset that continuously covers almost the entire lateral surface of cortex, from the occipital pole to the temporal and frontal poles. This protocol describes a chronic implantation procedure of the array in the epidural space of the marmoset brain.

Medicine

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Joel Z. Nordin^*1, Yoshitaka Mizobe^*1, Harumasa Nakamura², Hirofumi Komaki³, Shin'ichi Takeda¹, Yoshitsugu Aoki¹

¹Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, ²Clinical Research Support Office, Translational Medical Center, National Center of Neurology and Psychiatry, ³Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry

Here, we present the molecular characterization of dystrophin 38 expression using Sanger sequencing, RT-PCR, and western blotting in the clinical trial.

Genetics

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells

Hotake Takizawa¹, Mitsuto Sato¹, Yoshitsugu Aoki¹

¹Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry

In this article, we describe a detailed protocol for efficient modelling of Duchenne muscular dystrophy muscle using MYOD1-converted urine-derived cells to evaluate the restoration of dystrophin mRNA and protein levels after exon skipping.