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CRISPR/Cas9 Technology in Restoring Dystrophin Expression in iPSC-Derived Muscle Progenitors
Published on: September 14, 2019
CRISPR-Based Therapeutic Gene Editing for Duchenne Muscular Dystrophy: Advances, Challenges and Perspectives
Guofang Chen1, Tingyi Wei2,3, Hui Yang4,5
1Shanghai Key Laboratory of Maternal Fetal Medicine, Clinical and Translational Research Center of Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 201204, China.
Abstract:
Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease arising from loss-of-function mutations in the dystrophin gene and characterized by progressive muscle degeneration, respiratory insufficiency, cardiac failure, and premature death by the age of thirty. Albeit DMD is one of the most common types of fatal genetic diseases, there is no curative treatment for this devastating disorder. In recent years, gene editing via the clustered regularly interspaced short palindromic repeats (CRISPR) system has paved a new path toward correcting pathological mutations at the genetic source, thus enabling the permanent restoration of dystrophin expression and function throughout the musculature. To date, the therapeutic benefits of CRISPR genome-editing systems have been successfully demonstrated in human cells, rodents, canines, and piglets with diverse DMD mutations. Nevertheless, there remain some nonignorable challenges to be solved before the clinical application of CRISPR-based gene therapy. Herein, we provide an overview of therapeutic CRISPR genome-editing systems, summarize recent advancements in their applications in DMD contexts, and discuss several potential obstacles lying ahead of clinical translation.
Insights
Gene editing using CRISPR offers a promising approach to correct Duchenne muscular dystrophy (DMD) genetic mutations, restoring dystrophin protein function. While effective in preclinical models, challenges remain for clinical application of this gene therapy.
Area of Science:
- Genetics and Molecular Biology
- Neuromuscular Disorders
- Gene Therapy
Background:
- Duchenne muscular dystrophy (DMD) is a severe genetic neuromuscular disease caused by dystrophin gene mutations.
- Current treatments for DMD are limited, with no cure available for this progressive and fatal disorder.
- DMD leads to muscle degeneration, respiratory failure, cardiac issues, and premature death.
Purpose of the Study:
- To provide an overview of CRISPR genome-editing systems for therapeutic applications.
- To summarize recent advancements in applying CRISPR technology to Duchenne muscular dystrophy.
- To discuss challenges and obstacles for the clinical translation of CRISPR-based gene therapy for DMD.
Main Methods:
- Review of CRISPR genome-editing technologies and their mechanisms.
- Analysis of recent studies demonstrating CRISPR efficacy in DMD models (cells, rodents, canines, piglets).
- Identification and discussion of hurdles for clinical implementation.
Main Results:
- CRISPR gene editing has shown success in correcting DMD-causing mutations in various preclinical models.
- Demonstrated restoration of dystrophin expression and function in affected tissues.
- Preclinical evidence supports the therapeutic potential of CRISPR for DMD.
Conclusions:
- CRISPR genome editing presents a novel therapeutic strategy for Duchenne muscular dystrophy by targeting genetic defects.
- Significant progress has been made in preclinical settings, validating the approach.
- Overcoming remaining challenges is crucial for the successful clinical translation of CRISPR-based DMD gene therapy.
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