Successful Correction by Prime Editing of a Mutation in the <i>RYR1</i> Gene Responsible for a Myopathy
We report the first correction from prime editing a mutation in the <i>RYR1</i> gene, paving the way to gene therapies for RYR1-related myopathies. The <i>RYR1</i> gene codes for a calcium channel named Ryanodine receptor 1, which is expressed in skeletal muscle fibers. The f...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-12-01
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| Series: | Cells |
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| Online Access: | https://www.mdpi.com/2073-4409/13/1/31 |
| _version_ | 1827384860750118912 |
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| author | Kelly Godbout Joël Rousseau Jacques P. Tremblay |
| author_facet | Kelly Godbout Joël Rousseau Jacques P. Tremblay |
| author_sort | Kelly Godbout |
| collection | DOAJ |
| description | We report the first correction from prime editing a mutation in the <i>RYR1</i> gene, paving the way to gene therapies for RYR1-related myopathies. The <i>RYR1</i> 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 leads to motor disabilities. Currently, there are no effective treatments for these diseases, which are mainly caused by point mutations. Prime editing allows for the modification of precise nucleotides in the DNA. Our results showed a 59% correction rate of the T4709M mutation in the <i>RYR1</i> gene in human myoblasts by RNA delivery of the prime editing components. It is to be noted that T4709M is recessive and, thus, persons having a heterozygous mutation are healthy. These results are the first demonstration that correcting mutations in the RYR1 gene is possible. |
| first_indexed | 2024-03-08T15:10:33Z |
| format | Article |
| id | doaj.art-91aef639e2f445d0bd1581be4b1b97ad |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-08T15:10:33Z |
| publishDate | 2023-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-91aef639e2f445d0bd1581be4b1b97ad2024-01-10T14:53:15ZengMDPI AGCells2073-44092023-12-011313110.3390/cells13010031Successful Correction by Prime Editing of a Mutation in the <i>RYR1</i> Gene Responsible for a MyopathyKelly Godbout0Joël Rousseau1Jacques P. Tremblay2Molecular Biology Department, Laval University, Quebec, QC G1V 0A6, CanadaCHU de Québec Research Center, Laval University, Quebec, QC G1V 4G2, CanadaMolecular Biology Department, Laval University, Quebec, QC G1V 0A6, CanadaWe report the first correction from prime editing a mutation in the <i>RYR1</i> gene, paving the way to gene therapies for RYR1-related myopathies. The <i>RYR1</i> 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 leads to motor disabilities. Currently, there are no effective treatments for these diseases, which are mainly caused by point mutations. Prime editing allows for the modification of precise nucleotides in the DNA. Our results showed a 59% correction rate of the T4709M mutation in the <i>RYR1</i> gene in human myoblasts by RNA delivery of the prime editing components. It is to be noted that T4709M is recessive and, thus, persons having a heterozygous mutation are healthy. These results are the first demonstration that correcting mutations in the RYR1 gene is possible.https://www.mdpi.com/2073-4409/13/1/31prime editingCRISPR/Cas9gene editinggene therapyRYR1-related diseasesneuromuscular diseases |
| spellingShingle | Kelly Godbout Joël Rousseau Jacques P. Tremblay Successful Correction by Prime Editing of a Mutation in the <i>RYR1</i> Gene Responsible for a Myopathy Cells prime editing CRISPR/Cas9 gene editing gene therapy RYR1-related diseases neuromuscular diseases |
| title | Successful Correction by Prime Editing of a Mutation in the <i>RYR1</i> Gene Responsible for a Myopathy |
| title_full | Successful Correction by Prime Editing of a Mutation in the <i>RYR1</i> Gene Responsible for a Myopathy |
| title_fullStr | Successful Correction by Prime Editing of a Mutation in the <i>RYR1</i> Gene Responsible for a Myopathy |
| title_full_unstemmed | Successful Correction by Prime Editing of a Mutation in the <i>RYR1</i> Gene Responsible for a Myopathy |
| title_short | Successful Correction by Prime Editing of a Mutation in the <i>RYR1</i> Gene Responsible for a Myopathy |
| title_sort | successful correction by prime editing of a mutation in the i ryr1 i gene responsible for a myopathy |
| topic | prime editing CRISPR/Cas9 gene editing gene therapy RYR1-related diseases neuromuscular diseases |
| url | https://www.mdpi.com/2073-4409/13/1/31 |
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