Functional and dynamic gene expression profiling of polyglutamine

多聚谷氨酰胺疾病是由含有长聚谷氨酰胺束序列的异常蛋白引起的。一般认为突变蛋白的聚集对病理是必要的。然而，异常蛋白在聚集过程中诱导的分子事件尚未完全阐明。在这个项目中，我们将基因组学和蛋白质组学应用于这个问题，研究哪些基因和蛋白质在表达中受到影响。简而言之，我们发现不同的疾病基因以神经元类型特异性的方式引起不同的基因和蛋白质表达变化。在此过程中，我们发现了新的多聚谷氨酰胺病病理修饰基因，可为未来分子治疗的发展提供参考。

Polyglutamine diseases are caused by abnormal proteins containing an elongated polyglutamine tract sequence. It is generally believed that aggregation of the mutant proteins is essential for the pathology. However, molecular events induced by abnormal proteins during aggregation process are not fully elucidated. In this project, we applied genomics and proteomics to this question and investigated which genes and proteins are affected in expression. In brief, we found that different disease genes cause different gene and protein expression changes in a neuron type-specific manner. During the process, we found novel modifier genes of polyglutamine disease pathology, which could be used for the future development of molecular therapeutics.