Your browser doesn't support javascript.
loading
High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs.
Siles, Laura; Gaudó, Paula; Pomares, Esther.
Afiliación
  • Siles L; Fundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.
  • Gaudó P; Departament de Genètica, IMO Grupo Miranza, 08035 Barcelona, Spain.
  • Pomares E; Fundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.
Int J Mol Sci ; 24(4)2023 Feb 11.
Article en En | MEDLINE | ID: mdl-36835061
ABSTRACT
Achromatopsia is an autosomal recessive disorder, in which cone photoreceptors undergo progressive degeneration, causing color blindness and poor visual acuity, among other significant eye affectations. It belongs to a group of inherited retinal dystrophies that currently have no treatment. Although functional improvements have been reported in several ongoing gene therapy studies, more efforts and research should be carried out to enhance their clinical application. In recent years, genome editing has arisen as one of the most promising tools for personalized medicine. In this study, we aimed to correct a homozygous PDE6C pathogenic variant in hiPSCs derived from a patient affected by achromatopsia through CRISPR/Cas9 and TALENs technologies. Here, we demonstrate high efficiency in gene editing by CRISPR/Cas9 but not with TALENs approximation. Despite a few of the edited clones displaying heterozygous on-target defects, the proportion of corrected clones with a potentially restored wild-type PDE6C protein was more than half of the total clones analyzed. In addition, none of them presented off-target aberrations. These results significantly contribute to advances in single-nucleotide gene editing and the development of future strategies for the treatment of achromatopsia.
Asunto(s)
Palabras clave

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Defectos de la Visión Cromática / Sistemas CRISPR-Cas / Edición Génica Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: España

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Defectos de la Visión Cromática / Sistemas CRISPR-Cas / Edición Génica Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: España