Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells.

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 (deltaE302/303) 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 deltaF323-Y328 mutation. We show that the localization of this latter mutation is similar to wild type torsinA and unlike the deltaE302/303 mutation. This data suggests that the formation of intracellular inclusions is specific to deltaE302/303 and not a property shared by deltaF323-Y328.