O uso do CRISPR-Cas9 no Tratamento de Hemoglobinopatias
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Data
2023-12
Tipo de documento
Artigo Científico
Título da Revista
ISSN da Revista
Título de Volume
Área do conhecimento
Modalidade de acesso
Acesso fechado
Editora
Autores
BÉVÁRDI, Anita Silva
PINTO, Maria Luiza Martins da Silva
Orientador
DASTOLI, Alessandra Finardi
Coorientador
MÜLLER, Karen Barbosa
Resumo
As hemoglobinopatias são definidas como doenças que possuem alterações na hemoglobina, tanto genéticas, quanto estruturais. Dentre essas patologias, a anemia falciforme e talassemia beta, estão passando por diversos estudos relacionados a terapia gênica, mais especificamente ao CRISPR-Cas9, onde o sistema de defesa da bactéria detecta o DNA viral e envia a enzima Cas9 para cortar e degradar com precisão esse DNA invasor, dividindo-o em repetições curtas, agrupadas e regularmente espaçadas. Assim, indivíduos afetados com essas hemoglobinopatias, podem futuramente ter uma melhor qualidade de vida ou até mesmo, alcançarem uma cura. O objetivo desse trabalho é apresentar a aplicabilidade da terapia gênica no tratamento de hemoglobinopatias e com isso, mostrar os benefícios dessa nova técnica. Foi realizado um levantamento bibliográfico em artigos de 2000 a 2023 em plataformas de pesquisa em português, inglês e espanhol. Estudos foram realizados em camundongos a respeito da aplicabilidade do CRISPR/Cas9 no tratamento de hemoglobinopatias, dentre eles, o transplante de células do sangue periférico se sobressaiu pela sua eficiência e bons resultados. Com esses testes em animais, houve o seguimento para os testes em humanos que possuem hemoglobinopatias. Devido aos resultados positivos em camundongos, as pesquisas em humanos também obtiveram resultados satisfatórios. Com isso, foi aprovado para uso um tratamento no Reino Unido, onde pacientes com anemia falciforme não apresentaram crises vaso-oclusivas em um período de 12 meses e pacientes com talassemia beta não precisam de transfusões de sangue também em um período de 12 meses. Posto isso, conclui-se que o CRISPR-Cas9 é uma técnica promissora que está em constante avanço, visando o bem-estar de pacientes no tratamento de hemoglobinopatias.
Hemoglobinopathies are defined as diseases that have changes in hemoglobin, both genetic and structural. Among these pathologies, sickle cell anemia and beta thalassemia, are undergoing several studies related to gene therapy, more specifically CRISPR-Cas9, where the bacteria's defense system detects viral DNA and sends the Cas9 enzyme to cut and degrade it with precision. this invading DNA by dividing it into short, clustered, regularly spaced repeats. Thus, individuals affected by these hemoglobinopathies may have a better quality of life in the future or even achieve a cure. The objective of this work is to present the applicability of gene therapy in the treatment of hemoglobinopathies and, therefore, show the benefits of this new technique. A bibliographic survey was carried out on articles from 2000 to 2023 on research platforms in Portuguese, English and Spanish. Studies were carried out in mice regarding the applicability of CRISPR/Cas9 in the treatment of hemoglobinopathies, among them, peripheral blood cell transplantation stood out for its efficiency and good results. These tests on animals were followed by tests on humans who have hemoglobinopathies. Due to the positive results in mice, research in humans also obtained satisfactory results. As a result, a treatment was approved for use in the United Kingdom, where patients with sickle cell anemia did not experience vaso-occlusive crises over a period of 12 months and patients with beta thalassemia do not need blood transfusions over a period of 12 months. That said, it can be concluded that CRISPR-Cas9 is a promising technique that is constantly advancing, aiming at the well-being of patients in the treatment of hemoglobinopathies.
Hemoglobinopathies are defined as diseases that have changes in hemoglobin, both genetic and structural. Among these pathologies, sickle cell anemia and beta thalassemia, are undergoing several studies related to gene therapy, more specifically CRISPR-Cas9, where the bacteria's defense system detects viral DNA and sends the Cas9 enzyme to cut and degrade it with precision. this invading DNA by dividing it into short, clustered, regularly spaced repeats. Thus, individuals affected by these hemoglobinopathies may have a better quality of life in the future or even achieve a cure. The objective of this work is to present the applicability of gene therapy in the treatment of hemoglobinopathies and, therefore, show the benefits of this new technique. A bibliographic survey was carried out on articles from 2000 to 2023 on research platforms in Portuguese, English and Spanish. Studies were carried out in mice regarding the applicability of CRISPR/Cas9 in the treatment of hemoglobinopathies, among them, peripheral blood cell transplantation stood out for its efficiency and good results. These tests on animals were followed by tests on humans who have hemoglobinopathies. Due to the positive results in mice, research in humans also obtained satisfactory results. As a result, a treatment was approved for use in the United Kingdom, where patients with sickle cell anemia did not experience vaso-occlusive crises over a period of 12 months and patients with beta thalassemia do not need blood transfusions over a period of 12 months. That said, it can be concluded that CRISPR-Cas9 is a promising technique that is constantly advancing, aiming at the well-being of patients in the treatment of hemoglobinopathies.
Palavras-chave
Anemia falciforme, CRISPR-Cas9, Terapia gênica, Talassemias