Research Article on Exon Skipping in Alport Syndrome Mouse Model Published in Scientific Reports

2025.12.05

Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of Alport syndrome

Publication
Published Date : November 25, 2025

Alport syndrome is a progressive kidney disease caused by genetic mutations, with limited treatment options currently available. In our recent study, we evaluated the therapeutic potential of exon-skipping therapy using an Alport mouse model carrying a patient-derived mutation. Tamoxifen-induced podocyte-specific exon 21 skipping successfully restored collagen IV α5 expression and improved renal function and histopathology when induced either before or after disease onset. Notably, treatment after the onset of proteinuria also controlled progression of glomerular injury, suggesting therapeutic potential even in advanced stages. These findings offer promising insights into the development of exon-skipping therapies for Alport syndrome and other monogenic kidney diseases.

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