Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, Milan, Italy.
Brain Pathol. 2010 Jan;20(1):96-105. doi: 10.1111/j.1750-3639.2008.00249.x. Epub 2008 Dec 23.
We have previously demonstrated that the transcription of neuronal repressor element-1/neuron-restrictive silencer element (RE1/NRSE)-regulated genes is reduced in the brain of subjects with Huntington's disease (HD) as a result of increased binding of the repressor element-1 silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) to its RE1/NRSE targets. As specific non-neuronal REST/NRSF-regulated genes have been identified in the human genome, we exploited the possibility that the binding of REST/NRSF to its target RE1/NRSE sites may also be altered in the peripheral tissues of HD patients. Our results show that REST/NRSF occupancy is increased in lymphocytes from HD subjects, thus indicating for the first time that the activity of the RE1/NRSE sites is dysfunctional in vivo. Chromatin immunoprecipitation (ChIP) of the RE1/NRSE sites in lymphocytes may therefore be a reproducible, sensitive and specific means of searching for candidate markers of HD onset and progression.
我们之前已经证明,由于抑制元件-1/神经元抑制性沉默元件(RE1/NRSE)调节基因的转录因子的结合增加,亨廷顿病(HD)患者大脑中的神经元抑制元件-1 沉默转录因子/神经元抑制因子(REST/NRSF)到其 RE1/NRSE 靶标。由于在人类基因组中已经鉴定出了特定的非神经元 REST/NRSF 调节基因,因此我们利用了 REST/NRSF 与其靶标 RE1/NRSE 结合也可能在 HD 患者的外周组织中改变的可能性。我们的结果表明,HD 患者的淋巴细胞中 REST/NRSF 的占有率增加,这表明体内 RE1/NRSE 位点的活性失常。因此,淋巴细胞中 RE1/NRSE 位点的染色质免疫沉淀(ChIP)可能是一种可重复、敏感和特异的寻找 HD 发病和进展候选标志物的方法。