Previous work has suggested that in many neurological diseases genetic variabi lity in the loci predisposing subjects to autosomal dominant disease contributes to the risk of sporadic disease. Here, using a population...Previous work has suggested that in many neurological diseases genetic variabi lity in the loci predisposing subjects to autosomal dominant disease contributes to the risk of sporadic disease. Here, using a population-based sample of dyst onia cases, we show an association with the torsin A haplotype and sporadic idio pathic dystonia.展开更多
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 encod...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 torsinAAE require further studies.展开更多
文摘Previous work has suggested that in many neurological diseases genetic variabi lity in the loci predisposing subjects to autosomal dominant disease contributes to the risk of sporadic disease. Here, using a population-based sample of dyst onia cases, we show an association with the torsin A haplotype and sporadic idio pathic dystonia.
基金the National Natural Science Foundation of China,No.30400144
文摘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 torsinAAE require further studies.
