Mutations in smooth muscle alpha-a ... | Article | H1 Connect

Using several technical approaches, this publication shows, for the first time, that heterozygous mutations of alpha-smooth muscle (SM) actin (ACTA2) can induce various arterial diseases such as coronary artery occlusion and ischemic stroke. These changes correspond to intimal fibro-proliferative lesions in the arteries of affected patients. Moreover, cultured SM cells and myofibroblasts from patients with these mutations exhibit increased proliferation, suggesting that alpha-SM actin expression controls SM cell mitotic activity. These findings should be taken into consideration in the diagnosis and therapy of familiar vascular diseases and opens the possibility that defects in other contractile proteins, e.g. myosin, could also play a role in the onset of familiar arterial diseases.