Publication: Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures

The study demonstrated the expression changes of several types of small non-coding RNAs as well as known micro RNAs in FSHD2 muscle cells with known SMCHD1 mutations. Most myogenic micro RNAs were still differentially expressed in differentiated FSHD2 muscle cells. However, many small non-coding RNAs showed overall dampened expression in FSHD2 muscle compared to control, suggesting a potential connection with muscle differentiation defects in FSHD2 (which others have also seen). Further, some expression changes were associated with either aberrant DUX4 expression or SMCHD1 mutation, suggesting distinct signatures in FSHD2 and FSHD1 small non-coding RNA transcriptomes.

This publication was made possible by your investment in a cure and co-funded by the FSHD Canada Foundation.

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See grant RNA-mediated Epigenetic Silencing of D4Z4 repeats: Implications for targeted therapy for FSHD