Häbig Karina, Gellhaar Sandra, Heim Birgit, Djuric Verena, Giesert Florian, Wurst Wolfgang, Walter Carolin, Hentrich Thomas, Riess Olaf, Bonin Michael
Institute of Human Genetics, Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany; Institute of Human Genetics, MFT Services, University of Tuebingen, Tuebingen, Germany.
Biochim Biophys Acta. 2013 Dec;1832(12):2352-67. doi: 10.1016/j.bbadis.2013.09.009. Epub 2013 Sep 24.
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene represent the most common genetic cause of Parkinson's disease (PD). However, LRRK2 function and molecular mechanisms causing the parkinsonian phenotype remain widely unknown. Most of LRRK2 knockdown and overexpression models strengthen the relevance of LRRK2 in regulating neurite outgrowth. We have recently identified ARHGEF7 as the first guanine nucleotide exchange factor (GEF) of LRRK2. This GEF is influencing neurite outgrowth through regulation of actin polymerization. Here, we examined the expression profile of neuroblastoma cells with reduced LRRK2 and ARHGEF7 levels to identify additional partners of LRRK2 in this process. Tropomyosins (TPMs), and in particular TPM4, were the most interesting candidates next to other actin cytoskeleton regulating transcripts in this dataset. Subsequently, enhanced neurite branching was shown using primary hippocampal neurons of LRRK2 knockdown animals. Furthermore, we observed an enhanced number of growth cones per neuron and a mislocalization and dysregulation of ARHGEF7 and TPM4 in these neuronal compartments. Our results reveal a fascinating connection between the neurite outgrowth phenotype of LRRK2 models and the regulation of actin polymerization directing further investigations of LRRK2-related pathogenesis.
富含亮氨酸重复激酶2(LRRK2)基因的突变是帕金森病(PD)最常见的遗传病因。然而,LRRK2的功能以及导致帕金森病表型的分子机制仍不清楚。大多数LRRK2基因敲低和过表达模型都强化了LRRK2在调节神经突生长中的相关性。我们最近鉴定出ARHGEF7是LRRK2的首个鸟嘌呤核苷酸交换因子(GEF)。该GEF通过调节肌动蛋白聚合来影响神经突生长。在此,我们检测了LRRK2和ARHGEF7水平降低的神经母细胞瘤细胞的表达谱,以确定在此过程中LRRK2的其他相互作用分子。原肌球蛋白(TPM),尤其是TPM4,是该数据集中除其他肌动蛋白细胞骨架调节转录本外最有趣的候选分子。随后,利用LRRK2基因敲低动物的原代海马神经元,显示出神经突分支增加。此外,我们观察到这些神经元区室中每个神经元的生长锥数量增加,以及ARHGEF7和TPM4的定位错误和调节异常。我们的结果揭示了LRRK2模型的神经突生长表型与肌动蛋白聚合调节之间的迷人联系,为进一步研究LRRK2相关发病机制指明了方向。