TY - JOUR
T1 - The landscape of CRISPR/Cas9 for inborn errors of metabolism
AU - Leal, Andrés Felipe
AU - Fnu, Nidhi
AU - Benincore-Flórez, Eliana
AU - Herreño-Pachón, Angelica María
AU - Echeverri-Peña, Olga Yaneth
AU - Alméciga-Díaz, Carlos Javier
AU - Tomatsu, Shunji
N1 - Publisher Copyright:
© 2022 Elsevier Inc.
PY - 2023/1
Y1 - 2023/1
N2 - Since its discovery as a genome editing tool, the clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9 (CRISPR/Cas9) system has opened new horizons in the diagnosis, research, and treatment of genetic diseases. CRISPR/Cas9 can rewrite the genome at any region with outstanding precision to modify it and further instructions for gene expression. Inborn Errors of Metabolism (IEM) are a group of more than 1500 diseases produced by mutations in genes encoding for proteins that participate in metabolic pathways. IEM involves small molecules, energetic deficits, or complex molecules diseases, which may be susceptible to be treated with this novel tool. In recent years, potential therapeutic approaches have been attempted, and new models have been developed using CRISPR/Cas9. In this review, we summarize the most relevant findings in the scientific literature about the implementation of CRISPR/Cas9 in IEM and discuss the future use of CRISPR/Cas9 to modify epigenetic markers, which seem to play a critical role in the context of IEM. The current delivery strategies of CRISPR/Cas9 are also discussed.
AB - Since its discovery as a genome editing tool, the clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9 (CRISPR/Cas9) system has opened new horizons in the diagnosis, research, and treatment of genetic diseases. CRISPR/Cas9 can rewrite the genome at any region with outstanding precision to modify it and further instructions for gene expression. Inborn Errors of Metabolism (IEM) are a group of more than 1500 diseases produced by mutations in genes encoding for proteins that participate in metabolic pathways. IEM involves small molecules, energetic deficits, or complex molecules diseases, which may be susceptible to be treated with this novel tool. In recent years, potential therapeutic approaches have been attempted, and new models have been developed using CRISPR/Cas9. In this review, we summarize the most relevant findings in the scientific literature about the implementation of CRISPR/Cas9 in IEM and discuss the future use of CRISPR/Cas9 to modify epigenetic markers, which seem to play a critical role in the context of IEM. The current delivery strategies of CRISPR/Cas9 are also discussed.
KW - CRISPR/Cas9
KW - Gene therapy
KW - Guide RNA
KW - Safety harbor site
UR - http://www.scopus.com/inward/record.url?scp=85144017047&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2022.106968
DO - 10.1016/j.ymgme.2022.106968
M3 - Review article
C2 - 36525790
AN - SCOPUS:85144017047
SN - 1096-7192
VL - 138
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 1
M1 - 106968
ER -