Facioscapulohumeral muscular dystrophy (FSHD) is caused by the abnormal and delayed expression of a transcription factor called DUX4, which has a deleterious effect on adult muscle fibers. American and Dutch researchers have precisely characterized the D4Z4 region where the DUX4 gene is located:
- several fragments of the region of interest (D4Z4) were then studied in terms of their epigenetic status, using a reporter gene.
- A specific sequence in the region, composed of 126 nucleotides, was identified as responsible for hypermethylation under the effect of epigenetic factors.
This fundamental research paves the way for possible therapeutic advances, particularly with the use of more targeted compounds that act on chromatin structure, such as histone deacetylase (HDAC) inhibitors.
