Efficient CRISPR-Cas9-based genome editing of β-globin gene on erythroid cells from homozygous β⁰39-thalassemia patients.

ABSTRACT: Gene editing by the CRISPR-Cas9 nuclease system technology can be considered among the most promising strategies to correct hereditary mutations in a variety of monogenic diseases. In this paper, we present for the first time the correction, by CRISPR-Cas9 gene editing, of the β⁰39-thalassemia mutation, one of the most frequent in the Mediterranean area. The results obtained demonstrated the presence of normal β-globin genes after CRISPR-Cas9 correction of the β⁰39-thalassemia mutation performed on erythroid precursor cells from homozygous β⁰39-thalassemia patients. This was demonstrated by allele-specific PCR and sequencing. Accumulation of corrected β-globin mRNA and relevant "de novo" production of β-globin and adult hemoglobin (HbA) were found wi

SUBMITTER: Cosenza LC 

PROVIDER: S-EPMC8091488 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature