5/22/26

ReNU Syndrome - Splicing

One proposed mechanism for ReNU syndrome is disrupted pre-mRNA splicing within the spliceosome. This video illustrates that theory by showing how pathogenic RNU4-2 variants may alter spliceosome function, leading to errors in RNA processing and, ultimately, disease. While this is one hypothesis supported by current research, the full disease mechanism is still being investigated.

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Nicky Whiffin Explains ReNU Syndrome