Genome Editing Gene Therapy for Duchenne Muscular Dystrophy

J Neuromuscul Dis. 2015 Sep 22;2(4):343-355. doi: 10.3233/JND-150116.


Duchenne muscular dystrophy (DMD) is a severe genetic disorder caused by loss of function of the dystrophin gene on the X chromosome. Gene augmentation of dystrophin is challenging due to the large size of the dystrophin cDNA. Emerging genome editing technologies, such as TALEN and CRISPR-Cas9 systems, open a new erain the restoration of functional dystrophin and are a hallmark of bona fide gene therapy. In this review, we summarize current genome editing approaches, properties of target cell types for ex vivo gene therapy, and perspectives of in vivo gene therapy including genome editing in human zygotes. Although technical challenges, such as efficacy, accuracy, and delivery of the genome editing components, remain to be further improved, yet genome editing technologies offer a new avenue for the gene therapy of DMD.

Keywords: CRISPR-Cas9; Duchenne muscular dystrophy; TALEN; gene therapy; genome editing; iPS cells; zygotes.