Autophagy is up regulated in a neuronal model of charcot-marie tooth disease that overexpresses dynamin 2 mutant

Autophagy Is Up Regulated In A Neuronal Model Of Charcot-Marie Tooth Disease That Overexpresses Dynamin 2 Mutant

Anu Shanu,1, 3, 5  Scott E. Stimpson, 1, 3, 4 Jens R. Coorssen†2,3,4,5 and Simon J. Myers†1,3,4,5

Western Sydney University,1Neuro-Cell Biology Laboratory, 2Molecular Physiology, 3Molecular Medicine Research Group, 4School of Science and Health, 5School of Medicine, Locked Bag 1797, NSW 2751, Australia


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.

Keywords: DI-CMT, Dynamin II, autophagy, autophagosome.

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How to cite this article:
Anu Shanu, Scott E. Stimpson, Jens R. Coorssen and Simon J. Myers. Autophagy Is Up Regulated In A Neuronal Model Of Charcot-Marie Tooth Disease That Overexpresses Dynamin 2 Mutant. International Journal of Neuroscience Research, 2017; 1:3. DOI: 10.28933/ijnr-2017-03-2801


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