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Published on: April 3, 2021
Genome- and Cell-Based Strategies in Therapy of Muscular Dystrophies
Y Bou Saada1, Carla Dib, M Lipinski
1UMR 8126, CNRS, Université Paris-Sud, Université Paris Saclay, Institut de Cancérologie Gustave-Roussy, Villejuif, F-94805, France. vassetzky@igr.fr.
Abstract:
Muscular dystrophies are a group of heterogeneous genetic disorders characterized by progressive loss of skeletal muscle mass. Depending on the muscular dystrophy, the muscle weakness varies in degree of severity. The majority of myopathies are due to genetic events leading to a loss of function of key genes involved in muscle function. Although there is until now no curative treatment to stop the progression of most myopathies, a significant number of experimental gene- and cell-based strategies and approaches have been and are being tested in vitro and in animal models, aiming to restore gene function. Genome editing using programmable endonucleases is a powerful tool for modifying target genome sequences and has been extensively used over the last decade to correct in vitro genetic defects of many single-gene diseases. By inducing double-strand breaks (DSBs), the engineered endonucleases specifically target chosen sequences. These DSBs are spontaneously repaired either by homologous recombination in the presence of a sequence template, or by nonhomologous-end joining error prone repair. In this review, we highlight recent developments and challenges for genome-editing based strategies that hold great promise for muscular dystrophies and regenerative medicine.
Insights
Genome editing offers promising therapeutic strategies for muscular dystrophies by correcting genetic defects. This review explores recent advancements and challenges in applying genome editing for muscular dystrophies and regenerative medicine.
Area of Science:
- Biomedical Science
- Genetics
- Regenerative Medicine
Background:
- Muscular dystrophies are genetic disorders causing progressive skeletal muscle loss.
- Most myopathies result from genetic defects leading to loss of crucial muscle function genes.
- Currently, no cure exists for most myopathies, but experimental gene and cell therapies are under investigation.
Purpose of the Study:
- To review recent developments and challenges in genome editing strategies for muscular dystrophies.
- To highlight the potential of genome editing in regenerative medicine for muscle disorders.
Main Methods:
- Utilizing programmable endonucleases to induce targeted double-strand breaks (DSBs) in the genome.
- Employing homologous recombination or non-homologous end joining for DNA repair to correct genetic defects.
- Reviewing in vitro and animal model studies of gene- and cell-based strategies.
Main Results:
- Genome editing has emerged as a powerful tool for correcting genetic defects in single-gene disorders.
- Engineered endonucleases precisely target specific DNA sequences, facilitating genetic modification.
- The review synthesizes current progress and hurdles in applying these techniques to muscular dystrophies.
Conclusions:
- Genome editing strategies show significant promise for treating muscular dystrophies.
- Further research and development are crucial to overcome challenges and translate these findings into clinical applications for regenerative medicine.
