Normal localization of ΔF323-Y328 mutant torsinA in transfected human cells
2002
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.
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