Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disease for which no cure is available. FSHD is caused by the misexpression of the transcription factor DUX4 in skeletal muscle. However, DUX4 is also expressed in several non-muscle tissues like the skin and the thymus of healthy individuals and patients with FSHD. As DUX4 suppression is a potential therapeutic approach for FSHD, we study the function of DUX4 in non-muscle tissues in this project to determine whether DUX4 suppression is harmful for these tissues.
To study DUX4 expression in non-muscle tissues, we apply genetic, molecular and cellular techniques to non-muscle tissues and cells from animal models, healthy individuals and patients with FSHD. We combine this with single cell RNA studies and with studies involving DUX4-suppressing compounds to achieve a better understanding of the function of DUX4 in these tissues.
The project aims to unravel the function of DUX4 in non-muscle tissues, which helps us to determine the suitability of DUX4 suppression as a therapeutic approach for FSHD.
Financiering: Prinses Beatrix Spierfonds; Marie Skłodowska-Curie Individual Fellowship (grant agreement No 795655)