Autophagy is up regulated in a neuronal model of Charcot-Marie-Tooth disease that overexpresses dynamin 2 mutant

Dominant-Intermediate Charcot-Marie-Tooth disease is one of the most common inherited disorders affecting the peripheral nervous system. Pleckstrin homology domain mutations in dynamin 2 cause dominant-intermediate Charcot Marie Tooth Syndrome. Autophagy in normal cells helps to maintain homeostasis and degrade damaged or old organelles and proteins. Here we link the pleckstrin homology domain mutants and the disease state to autophagy. Cells over-expressing the K558E mutation in the pleckstrin homology domain of dynamin 2 have shown an increase in expression of ER stress and autophagy markers. Although the exact link between autophagy and peripheral neurodegeneration has yet to be fully elucidated, these results set the foundation for further research into the interactions between dynamin 2 mutations, autophagy, and Dominant-Intermediate Charcot-Marie-Tooth.