British and Dutch researchers have joined forces to discover a possible biological marker for facioscapulohumeral muscular dystrophy (FSHD):
- in view of the disappointing and/or contradictory results of studies of DUX4 gene expression in FSHD myopathy, the researchers focused their attention on genes repressed by PAX7, another gene involved in myogenesis and also interacting with DUX4,
- muscle samples and cells from FSHD patients and healthy subjects were used as material for this study,
- PAX7 proved to be more discriminating than DUX4, particularly in distinguishing between normal muscle, affected muscle and muscle in inflammation, and in assessing the severity of the clinical phenotype.
