Fig. 2.

Molecular mechanisms of skeletal muscle atrophy. Mutations in the GNE gene lead to excessive ROS production after muscle contraction. At the same time, Aβ deposition also causes oxidative stress. Skeletal muscle mitochondria are disturbed and atrogenes are upregulated. GNE can interact with α-actinin and activate RhoA. Phosphorylation of cofilin hampers F-actin depolymerization and the generation of G-actin monomers. GNE gene mutation leads to cytoskeletal disruption and slowed cell migration. Consequently, muscle atrophy may occur