Stem cell-derived brain cells, astrocytes, from Duchenne muscular dystrophy patients are defective

What is it about?

Duchenne Muscular dystrophy (DMD) is a severe neuromuscular disease characterized by progressive muscle waste. It is caused by mutations in the dystrophin gene (DMD). One-third of DMD patients present cognitive and behavioural problems. The role of the dystrophin protein in human brain function is far less well understood than in muscle. This study shows that different forms of dystrophin are expressed in developing brain and their expression changes with development and has set up cell models in a dish to study how human neural cells may be affected in DMD patients. Importantly, the study has identified abnormalities in the behaviour of human DMD astrocytes, brain cell types known to play essential roles in normal brain function and disease. Specifically, we have shown that DMD astrocytes display abnormal structure and functional responses to damage as compared to healthy one and identified gene networks that may underly these defects

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Photo by Lisa Yount on Unsplash

Photo by Lisa Yount on Unsplash

Why is it important?

Understanding disease mechanisms is important for guiding development of clinical treatments. This study supports the view that defective astrocyte responses may contribute to neural impairment in DMD patients and might provide additional potential therapeutic targets.

Perspectives