O sistema CRISPR/Cas9 e o potencial para a talassemia beta

Beatriz Bonvicini Serpeloni; Luíza Nayara Monção de  Oliveira; Bruno Damião; Luis Antonio Peroni; Patricia Ucelli Simioni

doi:10.23925/1984-4840.2021v23i1a2

Authors

Beatriz Bonvicini Serpeloni Faculdade de Americana (FAM) – Americana (SP), Brasil.
Luíza Nayara Monção de Oliveira Faculdade de Americana (FAM) – Americana (SP), Brasil. https://orcid.org/0000-0002-5118-1935
Bruno Damião Faculdade de Americana (FAM) – Americana (SP), Brasil.
Luis Antonio Peroni Faculdade de Americana (FAM) – Americana (SP), Brasil. https://orcid.org/0000-0002-3544-8986
Patricia Ucelli Simioni Faculdade de Americana (FAM) – Americana (SP), Brasil. https://orcid.org/0000-0002-6951-5040

DOI:

https://doi.org/10.23925/1984-4840.2021v23i1a2

Keywords:

Clustered Regularly Interspaced Short Palindromic Repeats, Genetic Diseases, Inborn, beta-Thalassemia, Genetic Therapy, Hemoglobinopathies

Abstract

Beta-thalassemia major is a hemoglobinopathy characterized by a recessive haplo-insufficient mendelian inheritance, being considered the most severe form of thalassemias. Carriers depend on regular blood transfusions and may develop future problems due to the subsequential iron accumulation. The aim of this study is to present a review and new insights into the CRISPR/Cas9 system in the editing of genetic sequences and its potential application in gene therapy for patients with hemoglobinopathies, especially beta thalassemia, which is characterized by molecular disorders associated with marked deficiency on the hemoglobin beta chain production. This change reflects in a reduced synthesis of hemoglobin that is currently treated with regular blood transfusion. CRISPR associated with Cas9 and guide-RNA form a complex, which is capable of recognizing a specific region of DNA and of removing it from the genome. This system has been modeled by researchers to act on targeted sites in DNA, in order to repair mutated genes. Gene therapy with CRISPR/Cas9 for beta thalassemia is still under study and analysis, consists of silencing the BCL11A gene and stimulating fetal hemoglobin production, resulting in an independence of blood transfusion by its carriers.

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