Why the study?
Mutations in RBM20 cause familial DCM by inducing RBM20 mis-localization, cytoplasmic ribonucleoprotein granule formation, and abnormal cardiac gene splicing, but precise therapeutic gene correction approaches required evaluation.
Does precise genomic editing of RBM20 mutations rescue cellular defects and cardiac dysfunction in models of dilated cardiomyopathy?
Population
Human isogenic iPSC-derived cardiomyocytes and Rbm20 R636Q mutant mice
Comparison
Adenine base editing or prime editing vs untreated controls
Design
Preclinical in vitro and in vivo gene editing study
Authors
Loading...
Hypothesis-generating for base editing in RBM20 cardiomyopathy; leaves open clinical translation pending human studies.
Does precise genomic editing of RBM20 mutations rescue cellular defects and cardiac dysfunction in models of dilated cardiomyopathy?
Precise genomic editing using adenine base editing and prime editing can correct pathogenic RBM20 mutations, rescuing cellular phenotypes in human iPSC-derived cardiomyocytes and restoring cardiac function and survival in a mouse model of dilated cardiomyopathy.
Nishiyama et al. (2022) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: