Van Alstyne Meaghan, Nguyen Vanessa L, Hoeffer Charles A, Parker Roy
Department of Biochemistry, University of Colorado Boulder, CO, USA.
Howard Hughes Medical Institute, University of Colorado, Boulder, CO, USA.
bioRxiv. 2024 Oct 12:2024.10.10.616100. doi: 10.1101/2024.10.10.616100.
Polyserine domains mediate the association of nuclear RNA binding proteins with cytoplasmic tau aggregates that occurs across tauopathy models and patient samples. In cell lines, polyserine peptides co-localize with and promote formation of tau aggregates suggesting the cytoplasmic mislocalization of polyserine-containing proteins might contribute to human disease. Moreover, polyserine can be produced by repeat associated non-AUG translation in CAG repeat expansion diseases. However, whether polyserine expressed in a mammalian brain is toxic and/or can exacerbate tau pathology is unknown. Here, we used AAV9-mediated delivery to express a 42-repeat polyserine protein in wild-type and tau transgenic mouse models. We observe that polyserine expression has toxic effects in wild-type animals indicated by reduced weight, behavioral abnormalities and a striking loss of Purkinje cells. Moreover, in the presence of a pathogenic variant of human tau, polyserine exacerbates disease markers such as phosphorylated and insoluble tau levels and the seeding capacity of brain extracts. These findings demonstrate that polyserine domains can promote tau-mediated pathology in a mouse model and are consistent with the hypothesis that cytoplasmic mislocalization of polyserine containing proteins might contribute to the progression of human tauopathies.
多聚丝氨酸结构域介导核RNA结合蛋白与细胞质中tau蛋白聚集体的结合,这种结合在多种tau蛋白病模型和患者样本中均有发生。在细胞系中,多聚丝氨酸肽与tau蛋白聚集体共定位并促进其形成,这表明含多聚丝氨酸蛋白的细胞质错误定位可能与人类疾病有关。此外,在CAG重复序列扩增疾病中,多聚丝氨酸可通过重复相关非AUG翻译产生。然而,在哺乳动物大脑中表达的多聚丝氨酸是否具有毒性和/或是否会加剧tau蛋白病理变化尚不清楚。在此,我们利用AAV9介导的递送在野生型和tau转基因小鼠模型中表达一种含42个重复序列的多聚丝氨酸蛋白。我们观察到,多聚丝氨酸的表达在野生型动物中具有毒性作用,表现为体重减轻、行为异常以及浦肯野细胞显著丢失。此外,在存在人类tau蛋白致病变体的情况下,多聚丝氨酸会加剧疾病标志物的水平,如磷酸化和不溶性tau蛋白水平以及脑提取物的种子接种能力。这些发现表明,多聚丝氨酸结构域可在小鼠模型中促进tau蛋白介导的病理变化,这与含多聚丝氨酸蛋白的细胞质错误定位可能导致人类tau蛋白病进展的假说一致。