Details

Autor(en) / Beteiligte

• Tsai, Yi-Ting
• da Costa, Bruna Lopes
• Nolan, Nicholas D
• Caruso, Salvatore Marco
• Jenny, Laura A
• Levi, Sarah R
• Tsang, Stephen H
• Quinn, Peter M J

Titel

Prime Editing for the Installation and Correction of Mutations Causing Inherited Retinal Disease: A Brief Methodology

Ist Teil von

• Methods in molecular biology (Clifton, N.J.), 2023, Vol.2560, p.313

Ort / Verlag

United States

Erscheinungsjahr

2023

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Inherited retinal diseases (IRDs) encompass a large heterogeneous group of rare blinding disorders whose etiology originates from mutations in the 280 genes identified to date. Clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated (Cas) systems represent a promising avenue for the treatment of IRDs, as exemplified by FDA clinical trial approval of EDIT-101 (AGN-151587), which removes a deep intronic variant in the CEP290 gene that causes Leber congenital amaurosis (LCA) type 10. Prime editing is a novel double-strand break (DSB) independent CRISPR/Cas system which has the potential to correct all 12 possible transition and transversion mutations in addition to small deletions and insertions. Here, as a proof-of-concept study, we describe a methodology using prime editing for the in vitro installation and correction of the classical Pde6b c.1678C > T (p.Arg560Cys) mutation which causes autosomal recessive retinitis pigmentosa (RP) in mice.