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iPSC Modeling of RBM20-Deficient DCM Identifies Upregulation of RBM20 as a Therapeutic Strategy
Using Stem Cell Models to Study Heart Disease Caused by RBM20 Deficiency and Finding That Increasing RBM20 May Help Treatment
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Abstract
Three RBM20 mutations were introduced into induced pluripotent stem cells, leading to impaired function in heart cells derived from these mutations.
- iPSC-derived heart cells exhibited defects in splicing of RBM20 target genes, calcium handling, and contractility, mirroring symptoms of dilated cardiomyopathy.
- A specific mutation, Pro633Leu, was identified as disease-causing based on exome sequencing of patient genomes and displayed similar cardiac dysfunction.
- Treatment with all-trans retinoic acid increased RBM20 expression and corrected the observed defects in splicing, calcium handling, and contractility in heart cells with RBM20 mutations.
- Pharmacological upregulation of RBM20 could represent a potential therapeutic approach for patients with specific RBM20 mutations associated with dilated cardiomyopathy.
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