A new biomarker for a form of muscular dystrophy could improve disease monitoring in patients
Researchers from the Tapscott lab identified KHDC1L as a circulating biomarker for DUX4 activity in facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy is driven by abnormal expression of the transcription factor DUX4, and current monitoring methods rely on invasive muscle biopsies that only capture localized disease activity. Using DUX4-expressing myoblasts and the SomaScan 7K aptamer proteomics platform, the team identified KHDC1L as a secreted protein with significantly higher levels in patient plasma compared to healthy individuals.
This advancement highlights how translational research in the region is enabling less invasive disease monitoring tools that could accelerate therapeutic development and evaluation for neuromuscular disorders.