Article
Correcting a pathogenic mitochondrial DNA mutation by base editing in mice.
Science translational medicine - 29 Jan 2025
Barrera-Paez Jose D, Bacman Sandra R, Balla Till, Van Booven Derek, Gannamedi Durga P, Stewart James B, Mok Beverly, Liu David R, Lombard David B, Griswold Anthony J, Nedialkova Danny D, Moraes Carlos T
Abstract excerpt
Primary mitochondrial disorders are most often caused by deleterious mutations in the mitochondrial DNA (mtDNA). Here, we used a mitochondrial DddA-derived cytosine base editor (DdCBE) to introduce a compensatory edit in a mouse model that carries the pathological mutation in the mitochondrial transfer RNA (tRNA) alanine (mt-tRNAAla) gene. Because the original m.5024C→T mutation (G→A in the mt-tRNAAla)...
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