Ludwig Institute for Cancer Research Ltd, Stockholm Branch, SE-17177 Stockholm, Sweden.
Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2360-5. doi: 10.1073/pnas.1221077110. Epub 2013 Jan 22.
Developmental transcription factors important in early neuron specification and differentiation often remain expressed in the adult brain. However, how these transcription factors function to mantain appropriate neuronal identities in adult neurons and how transcription factor dysregulation may contribute to disease remain largely unknown. The transcription factor Nurr1 has been associated with Parkinson's disease and is essential for the development of ventral midbrain dopamine (DA) neurons. We used conditional Nurr1 gene-targeted mice in which Nurr1 is ablated selectively in mature DA neurons by treatment with tamoxifen. We show that Nurr1 ablation results in a progressive pathology associated with reduced striatal DA, impaired motor behaviors, and dystrophic axons and dendrites. We used laser-microdissected DA neurons for RNA extraction and next-generation mRNA sequencing to identify Nurr1-regulated genes. This analysis revealed that Nurr1 functions mainly in transcriptional activation to regulate a battery of genes expressed in DA neurons. Importantly, nuclear-encoded mitochondrial genes were identified as the major functional category of Nurr1-regulated target genes. These studies indicate that Nurr1 has a key function in sustaining high respiratory function in these cells, and that Nurr1 ablation in mice recapitulates early features of Parkinson's disease.
在早期神经元特化和分化中起重要作用的发育转录因子在成年大脑中通常仍有表达。然而,这些转录因子如何在成年神经元中维持适当的神经元身份,以及转录因子失调如何导致疾病,在很大程度上仍然未知。转录因子 Nurr1 与帕金森病有关,是腹侧中脑多巴胺 (DA) 神经元发育所必需的。我们使用条件性 Nurr1 基因靶向小鼠,通过用他莫昔芬处理选择性地在成熟的 DA 神经元中剔除 Nurr1。我们发现 Nurr1 的剔除导致与纹状体 DA 减少、运动行为受损以及轴突和树突的营养不良相关的进行性病理。我们使用激光微切割 DA 神经元进行 RNA 提取和下一代 mRNA 测序,以鉴定 Nurr1 调节的基因。这项分析表明,Nurr1 主要通过激活转录来调节一组在 DA 神经元中表达的基因。重要的是,核编码的线粒体基因被确定为 Nurr1 调节的靶基因的主要功能类别。这些研究表明,Nurr1 在维持这些细胞的高呼吸功能方面具有关键作用,并且 Nurr1 在小鼠中的剔除再现了帕金森病的早期特征。