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In vivo genome editing at the albumin locus to treat methylmalonic acidemia

Jessica L. Schneller, Ciaran M. Lee, Leah E. Venturoni, Randy J. Chandler, Ang Li, Sangho Myung, Thomas J. Cradick, Ayrea Hurley, William R. Lagor, Gang Bao, Charles P. Venditti

2021Molecular Therapy — Methods & Clinical Development19 citationsDOIOpen Access PDF

Abstract

, we designed rescue cassettes expressing MMUT behind a 2A-peptide or an internal ribosomal entry site sequence. A second guide RNA targeted the initiator codon, and the donor cassette encompassed the proximal albumin promoter in the 5' homology arm. Although all editing approaches were therapeutic, targeting the start codon of albumin allowed the use of a donor cassette that also functioned as an episome and after homologous recombination, even without the expression of Cas9, as an integrant. Targeting the albumin locus using these strategies would be effective for other metabolic disorders where early treatment and permanent long-term correction are needed.

Topics & Concepts

Methylmalonic acidemiaGenome editingAlbuminLocus (genetics)In vivoGenomeComputational biologyGeneticsBiologyMedicineBiochemistryGeneInternal medicineMetabolism and Genetic DisordersGenetic Neurodegenerative DiseasesMitochondrial Function and Pathology
In vivo genome editing at the albumin locus to treat methylmalonic acidemia | Litcius