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Published on: December 29, 2017
A novel rabbit model of Duchenne muscular dystrophy generated by CRISPR/Cas9
Tingting Sui1, Yeh Siang Lau2, Di Liu1
1Jilin Provincial Key Laboratory of Animal Embryo Engineering, Jilin University, Changchun, 130062, China.
Abstract:
Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disorder caused by mutations in the dystrophin gene, with an incidence of 1 in 3500 in new male births. Mdx mice are widely used as an animal model for DMD. However, these mice do not faithfully recapitulate DMD patients in many aspects, rendering the preclinical findings in this model questionable. Although larger animal models of DMD, such as dogs and pigs, have been generated, usage of these animals is expensive and only limited to several facilities in the world. Here, we report the generation of a rabbit model of DMD by co-injection of Cas9 mRNA and sgRNA targeting exon 51 into rabbit zygotes. The DMD knockout (KO) rabbits exhibit the typical phenotypes of DMD, including severely impaired physical activity, elevated serum creatine kinase levels, and progressive muscle necrosis and fibrosis. Moreover, clear pathology was also observed in the diaphragm and heart at 5 months of age, similar to DMD patients. Echocardiography recording showed that the DMD KO rabbits had chamber dilation with decreased ejection fraction and fraction shortening. In conclusion, this novel rabbit DMD model generated with the CRISPR/Cas9 system mimics the histopathological and functional defects in DMD patients, and could be valuable for preclinical studies.This article has an associated First Person interview with the first author of the paper.
Insights
Researchers created a new rabbit model for Duchenne muscular dystrophy (DMD) using CRISPR/Cas9 technology. These rabbits accurately mimic human DMD symptoms, offering a valuable tool for future Duchenne muscular dystrophy research and drug development.
Area of Science:
- Genetics
- Animal Models
- Biotechnology
Background:
- Duchenne muscular dystrophy (DMD) is a severe X-linked genetic disorder.
- Current animal models like mdx mice have limitations in fully recapitulating DMD pathology.
- Larger animal models are costly and have limited accessibility.
Purpose of the Study:
- To develop a more accurate and accessible animal model for Duchenne muscular dystrophy.
- To utilize CRISPR/Cas9 gene editing for precise genetic modification in rabbits.
- To validate the generated rabbit model for its utility in preclinical studies.
Main Methods:
- CRISPR/Cas9 gene editing was employed by co-injecting Cas9 mRNA and sgRNA targeting exon 51 of the DMD gene into rabbit zygotes.
- Generated rabbits were assessed for Duchenne muscular dystrophy phenotypes.
- Histopathological analysis and echocardiography were performed to evaluate disease progression and cardiac function.
Main Results:
- DMD knockout rabbits exhibited hallmark DMD symptoms, including impaired physical activity and elevated creatine kinase levels.
- Progressive muscle necrosis and fibrosis were observed, alongside cardiac pathology (chamber dilation, reduced ejection fraction) similar to human patients.
- The rabbit model demonstrated key histopathological and functional deficits characteristic of Duchenne muscular dystrophy.
Conclusions:
- A novel rabbit model of Duchenne muscular dystrophy was successfully generated using CRISPR/Cas9 technology.
- This rabbit model accurately mimics the clinical and pathological features of DMD in patients.
- The developed model presents a valuable platform for preclinical research and therapeutic development for Duchenne muscular dystrophy.
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