Treating Chromosomal Abnormalities with CRISPR Gene Editing
DOI:
https://doi.org/10.58445/rars.3435Keywords:
Chromosomal Abnormalities, CRISPRAbstract
Chromosomal abnormalities, some of the most prevalent genetic diseases in the world, are caused when chromosomes are present in the wrong number or configuration. Some common types include duplications (more chromosomes than normal), deletions (less chromosomes than normal), and other structural issues (deletions, duplications, or inversions within one chromosome). Unfortunately, there are few available treatments for any of these diseases today. However, there have been several studies based on the possibility of using CRISPR gene editing techniques to treat these conditions. These methods range from using traditional CRISPR-Cas9 for treating duplications, utilizing integrase proteins to treat deletions, and employing gold nanoparticles to deliver CRISPR directly into the brain. CRISPR gene editing methods have the potential to become a widespread curative technique for chromosomal abnormalities.
References
Ma, Yuanwu, et al. “Genome modification by crispr/cas9.” The FEBS Journal, vol. 281, no. 23, 7 Nov. 2014, pp. 5186–5193, https://doi.org/10.1111/febs.13110.
Paulis, Marianna, et al. “Chromosome Transplantation: A Possible Approach to Treat Human X-Linked Disorders.” Molecular Therapy - Methods & Clinical Development, Jan. 2020, https://doi.org/10.1016/j.omtm.2020.01.003.
Park, So Hyun. “CRISPR/Cas9 Gene Editing for Curing Sickle Cell Disease.” Transfusion and Apheresis Science, vol. 60, no. 1, 10 Jan. 2021, p. 103060, www.sciencedirect.com/science/article/abs/pii/S1473050221000100, https://doi.org/10.1016/j.transci.2021.103060.
MedlinePlus. “Down Syndrome.” Medlineplus.gov, National Library of Medicine, 26 Jan. 2024, medlineplus.gov/downsyndrome.html.
---. “Trisomy 13.” Medlineplus.gov, National Library of Medicine, 9 Sept. 2021, medlineplus.gov/genetics/condition/trisomy-13/.
---. “Trisomy 18: MedlinePlus Genetics.” Medlineplus.gov, 16 Feb. 2021, medlineplus.gov/genetics/condition/trisomy-18/.
Adikusuma, Fatwa, et al. “Targeted Deletion of an Entire Chromosome Using CRISPR/Cas9.” Molecular Therapy, vol. 25, no. 8, Aug. 2017, pp. 1736–1738, https://doi.org/10.1016/j.ymthe.2017.05.021.
---. “Cas3 Protein—a Review of a Multi-Tasking Machine.” Genes, vol. 11, no. 2, 18 Feb. 2020, www.ncbi.nlm.nih.gov/pmc/articles/PMC7074321/, https://doi.org/10.3390/genes11020208.
Marino, Nicole D., et al. “Anti-CRISPR Protein Applications: Natural Brakes for CRISPR-Cas Technologies.” Nature Methods, vol. 17, no. 5, 16 Mar. 2020, pp. 471–479, www.ncbi.nlm.nih.gov/pmc/articles/PMC8510557/, https://doi.org/10.1038/s41592-020-0771-6.
Medline Plus. “Turner Syndrome: MedlinePlus Genetics.” Medlineplus.gov, MedlinePlus, 8 Sept. 2020, medlineplus.gov/genetics/condition/turner-syndrome/.
MedlinePlus. “Cri-Du-Chat Syndrome.” Medlineplus.gov, National Library of Medicine, 8 Sept. 2020, medlineplus.gov/genetics/condition/cri-du-chat-syndrome/.
“Wolf-Hirschhorn Syndrome: MedlinePlus Genetics.” Medlineplus.gov, 22 May 2023, medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/.
Yarnall, Matthew T. N., et al. “Drag-And-Drop Genome Insertion of Large Sequences without Double-Strand DNA Cleavage Using CRISPR-Directed Integrases.” Nature Biotechnology, vol. 41, no. 4, 24 Nov. 2022, https://doi.org/10.1038/s41587-022-01527-4.
Lampe, George D, et al. “Structure-Guided Engineering of Type I-F CASTs for Targeted Gene Insertion in Human Cells.” BioRxiv (Cold Spring Harbor Laboratory), 19 Sept. 2024, https://doi.org/10.1101/2024.09.19.613948. Accessed 19 Oct. 2025.
Vuelta, Elena, et al. “Future Approaches for Treating Chronic Myeloid Leukemia: CRISPR Therapy.” Biology, vol. 10, no. 2, 1 Feb. 2021, p. 118, www.mdpi.com/2079-7737/10/2/118/htm, https://doi.org/10.3390/biology10020118.
Lee, Bumwhee, et al. “Nanoparticle Delivery of CRISPR into the Brain Rescues a Mouse Model of Fragile X Syndrome from Exaggerated Repetitive Behaviours.” Nature Biomedical Engineering, vol. 2, no. 7, 25 June 2018, pp. 497–507, https://doi.org/10.1038/s41551-018-0252-8.
Rueda, Jon, et al. “Affordable Pricing of CRISPR Treatments Is a Pressing Ethical Imperative.” The CRISPR Journal, vol. 7, no. 5, 10 Oct. 2024, www.liebertpub.com/doi/10.1089/crispr.2024.0042, https://doi.org/10.1089/crispr.2024.0042.
Bosco, Nazario, et al. “KaryoCreate: A CRISPR-Based Technology to Study Chromosome-Specific Aneuploidy by Targeting Human Centromeres.” Cell, vol. 186, no. 9, 27 Apr. 2023, pp. 1985-2001.e19, www.sciencedirect.com/science/article/pii/S0092867423003264, https://doi.org/10.1016/j.cell.2023.03.029. Accessed 10 Dec. 2023.
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