Publication: In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice
In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice
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Böck, D., Revers, I. M., Bomhof, A. S. J., Hillen, A. E. J., Boeijink, C., Kissling, L., Egli, S., Moreno-Mateos, M. A., van der Knaap, M. S., van Til, N. P., & Schwank, G. (2024). In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice. Molecular Therapy, 32(5), 1328–1343. https://doi.org/10.1016/j.ymthe.2024.03.009
Abstract
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Abstract
Vanishing white matter (VWM) is a fatal leukodystrophy caused by recessive mutations in subunits of the eukaryotic translation initiation factor 2B. Currently, there are no effective therapies for VWM. Here, we assessed the potential of adenine base editing to correct human pathogenic VWM variants in mouse models. Using adeno-associated viral vectors, we delivered intein-split adenine base editors into the cerebral ventricles of newborn VWM mice, resulting in 45.9% ± 5.9% correction of the Eif2b5$^{R191H}$ variant in the cortex. Treat
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- Böck, Desirée
- Revers, Ilma M
- Bomhof, Anastasia S J
- Hillen, Anne E J
- Boeijink, Claire
- Kissling, Lucas
- Egli, Sabina
- Moreno-Mateos, Miguel A
- van der Knaap, Marjo S
- van Til, Niek P
- Schwank, Gerald
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Böck, D., Revers, I. M., Bomhof, A. S. J., Hillen, A. E. J., Boeijink, C., Kissling, L., Egli, S., Moreno-Mateos, M. A., van der Knaap, M. S., van Til, N. P., & Schwank, G. (2024). In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice. Molecular Therapy, 32(5), 1328–1343. https://doi.org/10.1016/j.ymthe.2024.03.009
