While vascular damage is suspected in Duchenne muscular dystrophy (DMD), recent studies show that dystrophin deficiency alters the plasticity of vascular smooth muscle cells. These results were obtained from mdx mice and vascular smooth muscle cells derived from induced pluripotent stem cells from patients with the disease.
- Dystrophin is highly expressed in normal smooth muscle cells.
- Its absence alters the maturation of vascular smooth muscle cells, reduces their ability to contract, alters their mitochondrial homeostasis and promotes their degeneration.
- It also leads to reduced vascular development and disruption of vascular architecture, with abnormally thin and thickened vessel walls in certain areas.
- The expression of genes related to the proliferation and differentiation of vascular smooth muscle cells and vascular development is dysregulated.
- In the event of oxidative stress, the absence of dystrophin leads to increased apoptosis.
Therapeutic strategies targeting the signalling pathways involved in these vascular abnormalities could slow the progression of the disease.
