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CCR5-Δ32 Mutation: A Gateway to HIV Resistance and Beyond

CCR5-Δ32 Mutation: A Gateway to HIV Resistance and Beyond

The CCR5-Delta 32 (CCR5-Δ32) mutation involves a homozygous deletion of 32 base pairs in the CCR5 gene. This particular deletion is present in about 1% of the Caucasian population and confers a significant resistance to HIV-1 due to the absence of the necessary receptors for the virus to enter human cells [1]. This mutation disables the CCR5 receptor on the surface of white blood cells, which is used by HIV as an entry point into the cell. Without a functional version of CCR5, HIV is essentially unable to infiltrate a person's immune system [2].

The implications of the CCR5-Δ32 mutation have been explored in gene-editing research, particularly with the CRISPR-Cas9 system. A notable instance is the birth of Chinese twins whose CCR5 gene was inactivated via CRISPR-Cas9 to theoretically provide protection against HIV infection. This event highlighted certain uncertainties and sparked discussions regarding the ethical considerations of gene editing, especially in the context of CCR5-Δ32 biology [3].

Furthermore, the CCR5-Δ32 mutation has been acknowledged as a double-edged sword in the pathogenesis and defense mechanism against various health conditions. Besides its known effect on viral infections like HIV, this genetic variation could also play a role in autoimmune diseases and cancers [4].

Interestingly, research has also suggested a potential influence of the CCR5-Δ32 mutation on SARS-CoV-2 infection, although the exact nature of this influence requires further investigation [5].

The mutation's role in HIV resistance, its implications in gene editing, and its broader impact on other health conditions provide a multifaceted perspective on the significance and potential applications of understanding the CCR5-Δ32 mutation.

ccr5 delta 32

Bibliography

  1. "HIV-1 Cure after CCR5Δ32/Δ32 Allogeneic Hematopoietic Stem Cell Transplantation." Nature Medicine, vol. 29, no. 3, Nature Portfolio, Feb. 2023, pp. 547--48, https://doi.org/10.1038/s41591-023-02215-9. (https://www.nature.com/articles/s41591-023-02215-9)

  2. Kempner, Martha. "The Genetic Mutation behind the Only Apparent Cure for HIV." Thebodypro.com, TB Pro, 14 Mar. 2019, (https://www.thebodypro.com/article/genetic-mutation-behind-hiv-cure)

  3. Xu, Mengmeng. "CCR5-Δ32 Biology, Gene Editing, and Warnings for the Future of CRISPR-Cas9 as a Human and Humane Gene Editing Tool." Cell & Bioscience, vol. 10, no. 1, BioMed Central, Mar. 2020, https://doi.org/10.1186/s13578-020-00410-6. (https://cellandbioscience.biomedcentral.com/articles/10.1186/s13578-020-00410-6)

  4. Norasi, Elmira, et al. "Prevalence of CCR5 Delta 32 Genetic Variant in the Turkmen Population of Golestan Province, Northeast of Iran." BioMed Research International, vol. 2023, Hindawi Publishing Corporation, June 2023, pp. 1--8, https://doi.org/10.1155/2023/8823863. (https://www.hindawi.com/journals/bmri/2023/8823863/)

  5. Hubacek JA, Dusek L, Majek O, Adamek V, Cervinkova T, Dlouha D, Pavel J, Adamkova V. CCR5Delta32 deletion as a protective factor in Czech first-wave COVID-19 subjects. Physiol Res. 2021 Mar 17;70(1):111-115. doi: 10.33549/physiolres.934647. PMID: 33728925; PMCID: PMC8820511. (https://pubmed.ncbi.nlm.nih.gov/33728925/)