Litcius/Paper detail

A mutation-independent CRISPR-Cas9–mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency

Lili Wang, Yang Yang, Camilo Breton, Peter Bell, Mingyao Li, Jia Zhang, Yan Che, A. Saveliev, Zhenning He, John White, Caitlin Latshaw, Chenyu Xu, Deirdre McMenamin, Hongwei Yu, Hiroki Morizono, Mark L. Batshaw, James M. Wilson

2020Science Advances66 citationsDOIOpen Access PDF

Abstract

mice. However, an editing vector able to correct one mutation would not be applicable for patients carrying different OTC mutations, plus expression would not be fast enough to treat a hyperammonemia crisis. Here, we describe a dual-AAV vector system that accomplishes rapid short-term expression from a non-integrated minigene and long-term expression from the site-specific integration of this minigene without any selective growth advantage for OTC-positive cells in newborns. This CRISPR-Cas9 gene-targeting approach may be applicable to all patients with OTC deficiency, irrespective of mutation and/or clinical state.

Topics & Concepts

MinigeneOrnithine transcarbamylaseOrnithine transcarbamylase deficiencyCRISPRCas9BiologyGenome editingMutationHyperammonemiaFrameshift mutationUrea cycleGeneGeneticsCancer researchAlternative splicingExonEndocrinologyAmino acidArginineCRISPR and Genetic EngineeringVirus-based gene therapy researchMetabolism and Genetic Disorders