Disruption of Protein Processing in the Endoplasmic Reticulum of DYT1 Knock-in MiceImplicates Novel Pathways in Dystonia Pathogenesis

In this paper, published in the Journal of Neuroscience October 2016, Pedro Gonzalez-Alegre and his collaborators tested a hypothesis that cellular stress induced in the mouse brain will cause torsinA malfunction.

Although the mice under such stress did not show motor dysfunction, the investigators found several changes in brain metabolism, especially involving calcium. They uncovered an interaction between DYT1 genotype and calcium dynamics in neurons.

This study links several neuronal pathways and calcium physiology to dystonia pathogenesis and implicates again that cell stress response might be critical in disease development.