Normal localization of ΔF323-Y328 mutant torsinA in transfected human cells

Abstract Two mutations in torsinA have been identified to date, both of which are associated with an autosomal dominant form of early onset-dystonia. It has been reported previously that expression of the more common mutation, a deletion of one of a pair of glutamates (ΔE302/303) produces intracellular, endoplasmic reticulum-derived inclusions in cultured cells. In this study we have replicated these previous results and have additionally looked at the localization of the more recently described ΔF323-Y328 mutation. We show that the localization of this latter mutation is similar to wild type torsinA and unlike the ΔE302/303 mutation. This data suggests that the formation of intracellular inclusions is specific to ΔE302/303 and not a property shared by ΔF323-Y328.