Godbout, K.; Rousseau, J.; Tremblay, J.P. Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy. Cells2024, 13, 31.
Godbout, K.; Rousseau, J.; Tremblay, J.P. Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy. Cells 2024, 13, 31.
Godbout, K.; Rousseau, J.; Tremblay, J.P. Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy. Cells2024, 13, 31.
Godbout, K.; Rousseau, J.; Tremblay, J.P. Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy. Cells 2024, 13, 31.
Abstract
We report the first correction by Prime editing of a mutation in the RYR1 gene, paving the way to gene therapies for RYR1-related myopathies. The RYR1 gene codes for a calcium channel named Ryanodine receptor 1, which is expressed in skeletal muscle fibers. The failure of this channel causes muscle weakness in patients, which degenerates into motor disabilities. Currently, there are no effective treatments for these diseases, which are mainly caused by point mutations. Prime editing allows the modification of precise nucleotides in the DNA. Our results showed a 59% correction rate of the T4709M mutation in the RYR1 gene in human myoblasts by RNA delivery of the Prime editing components. It is to be noted that the T4709M is recessive, and thus, persons having a heterozygous mutation are healthy. These results are the first demonstration that it is possible to correct mutations in the RYR1 gene.
Biology and Life Sciences, Biochemistry and Molecular Biology
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