Circulation: The Changxing team of West Lake University uses base editing to bring hope to cure Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a single-gene genetic disease.

As one of the most common fatal genetic diseases, it is estimated that one DMD patient will occur in every 3500-5000 newborn males

In recent years, the rapid development of gene editing technology has brought new hope for the treatment of single-gene genetic diseases such as DMD

Recently, Life Sciences, University of the West Lake Chang Xing research group in Circulation published online entitled: Therapeutic Exon Skipping Via A CRISPR-Guided Cytidine Deaminase rescues dystrophic an In Vivo Cardiomyopathy research papers

This study proved that the use of CRISPR-AID (TAM) base editor can efficiently induce exon skipping in mouse models, restore Dystrophin protein expression, and cure Duchenne muscular dystrophy

Researcher Chang Xing of West Lake University is the corresponding author of this article, and assistant researcher Dr.

Previously, Chang Xing's research group independently developed the CRISPR-AID (TAM) base editor (Nature Methods-2016), and based on this, created a genetic manipulation system for RNA splicing (Molecular Cell-2018)

In order to explore the therapeutic effect of this gene editing system on DMD, the research team first identified a new mouse model---DmdE4*

Figure 1 Principle of gene therapy (A) and treatment plan (B) for DmdE4* mice

In response to this model, the research team targeted the exons carrying disease-causing mutations and used the Cas9-AID base editor to induce a G>A mutation at the 5'splice site of the target exon to make it an exon.

Figure 2 For the gene therapy effect of DmdE4* mice, A.

At the same time, the Changxing team’s research results have completed the initial transformation of results, and cooperated with emerging domestic gene therapy companies to strive to overcome genetic diseases that are difficult to cure by traditional methods such as DMD as soon as possible

Original source:

Jia Li, Kaiying Wang, Yuchen Zhang, et al.