Role of DYT1 gene in early-onset primary torsion dystonia

摘要

Mutation of the DYT1 gene has been reported to cause early-onset primary torsion dystonia (DYT1).Due to DYT1 gene mutation,defective wild torsinA and the accumulation of mutant torsinA (GAG-deleted DYT1 gene encoded the mutant torsinA,torsinA?E) play an important role in DYT1 pathogenesis.Intracellular inclusion bodies are formed,and dopamine transport and release are disturbed by interfering functions of endoplasmic reticulum,nuclear membrane,and cytoskeleton of neural cells,resulting in DYT1 onset.Small interfering RNA could serve as a potential therapy for DYT1.However,the exact function of wild torsinA and the pathological effects of torsinA?E require further studies.