TorsinA mediated dystonia, functional analysis and molecular models

肌张力障碍是一组以持续肌肉收缩为特征的运动障碍，导致扭曲和异常的姿势。目前的治疗方案可能提供一定程度的症状缓解，但往往不能令人满意，并受到不良副作用的限制。肌张力障碍的患病率估计约为每百万人中300例。肌张力障碍是一种复杂的疾病，其病因和发病机制尚不清楚。然而，在过去的10年里，已经发现了几个可以引起肌张力障碍的基因。这项提议的总体目标是描述一种基因，这种基因在被破坏时导致肌张力障碍。了解这种基因的功能可能会大大提高我们对这种疾病的理解。利用这些结果，我们的目标是模拟细胞和动物系统中的肌张力障碍；这些可能为肌张力障碍的分子途径提供了强有力的见解，并为开发新的治疗方法来缓解或预防这种疾病提供了一种手段。

The dystonias represent a group of movement disorders characterised by sustained muscle contraction, resulting in twisting and abnormal postures. Current treatment regimes may provide some measure of symptomatic relief, but are often unsatisfactory and limited by adverse side effects. The prevalence of dystonia is estimated at approximately 300 cases per million population. Dystonia is a complex disorder, the causes and disease mechanisms are not well understood. However, in the past 10 years several genes have been identified that can cause dystonia. The overall aim of this proposal is to characterise a gene that causes dystonia when disrupted. Understanding the function of this gene may significantly advance our understanding of this disorder. Using these results, we aim to model dystonia in cellular and animal systems; these may provide powerful insight into the molecular pathway(s) perturbed in dystonia and a means to develop novel therapeutic approaches to alleviate or prevent the disorder.