Posted by Friends of FSH Research on Nov 13, 2025
Report by Tessa Arends
See also Consequence of human satellite II repeat expression in FSHD
My research investigates a key mechanism underlying DUX4-induced toxicity in skeletal muscle: the expression of pericentromeric human satellite II (HSATII) repeats. My published and current work have uncovered a dual function of HSATII expression in FSHD – (1) global epigenetic reprogramming via HSATII DNA-protein interactions and (2) regulation of RNA metabolism pathways via HSATII noncoding RNA-protein interactions. Therefore, HSATII de-repression, both active transcription and noncoding RNA accumulation, can impact signaling, RNA metabolism and epigenetic regulation pathways downstream of DUX4 activity. My current studies are evaluating strategies to suppress HSATII transcription and noncoding RNA accumulation. Additionally, I have determined signaling pathways downstream of DUX4 activity that modulate HSATII expression. These findings will have therapeutic benefit in FSHD, possibly in combination to other targeted gene therapies.
Connect with us on social media