FSHD: searching for the ideal biomarker

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 inflammationRéaction non spécifique suscitée par un agent pathogène., and in assessing the severity of the clinical phenotype.

The FSHD muscle-blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy. Banerji CRS, Greco A, Joosten LAB et al. Brain Commun. 2023 Aug 16;5(5):fcad221.

 

Facioscapulohumeral muscular dystrophy’s game of homeodomains: therapy wants a biomarker as a sword wants a whetstone. Kyba M, Bosnakovski D. Brain Commun. 2023 Sep 2;5(5):fcad235.