Gene Repair of iPSC Line with GARS (G294R) Mutation of CMT2D Disease by CRISPR/Cas9.
Curr Med Sci
; 43(2): 261-267, 2023 Apr.
Article
en En
| MEDLINE
| ID: mdl-36932303
ABSTRACT
OBJECTIVE:
Charcot-Marie-Tooth disease (CMT) severely affects patient activity, and may cause disability. However, no clinical treatment is available to reverse the disease course. The combination of CRISPR/Cas9 and iPSCs may have therapeutic potential against nervous diseases, such as CMT.METHODS:
In the present study, the skin fibroblasts of CMT type 2D (CMT2D) patients with the c.880G>A heterozygous nucleotide mutation in the GARS gene were reprogrammed into iPSCs using three plasmids (pCXLE-hSK, pCXLE-hUL and pCXLE-hOCT3/4-shp5-F). Then, CRISPR/Cas9 technology was used to repair the mutated gene sites at the iPSC level.RESULTS:
An iPSC line derived from the GARS (G294R) family with fibular atrophy was successfully induced, and the mutated gene loci were repaired at the iPSC level using CRISPR/Cas9 technology. These findings lay the foundation for future research on drug screening and cell therapy.CONCLUSION:
iPSCs can differentiate into different cell types, and originate from autologous cells. Therefore, they are promising for the development of autologous cell therapies for degenerative diseases. The combination of CRISPR/Cas9 and iPSCs may open a new avenue for the treatment of nervous diseases, such as CMT.Palabras clave
Texto completo:
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Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Charcot-Marie-Tooth
/
Reparación del Gen Blanco
/
Células Madre Pluripotentes Inducidas
Límite:
Humans
Idioma:
En
Revista:
Curr Med Sci
Año:
2023
Tipo del documento:
Article
País de afiliación:
China