The Role of Huntingtin Misfolding and Oligomerization in Huntingtons Disease

亨廷顿蛋白基因的突变通过使基因产物聚集在一起形成不规则和不同大小的聚合物而引起亨廷顿病。然而，我们还不清楚这个过程是如何导致细胞死亡的，很大程度上是因为我们不了解这些异常形式是如何随着时间在细胞中积累的。我们将检查细胞中异常形状积聚的位置以及它们如何引起毒性。这项研究将确定治疗亨廷顿舞蹈病的关键靶点。

Mutations in the huntingtin gene cause Huntington's disease by making the gene product aggregate together into non-normal and different sized polymers. However, it is not understood how this process causes cells to die, largely because we don't understand how the abnormal forms accumulate in cells over time. We will examine where in cells the abnormal shapes accumulate and how they cause toxicity. This research will identify critically-needed therapeutic targets against Huntington's disease.