Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, 4200-135 Porto, Portugal.
Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal.
Cells. 2022 Jun 19;11(12):1969. doi: 10.3390/cells11121969.
Spinocerebellar ataxia type 3 (SCA3) is caused by the expansion of a glutamine repeat in the protein ataxin-3, which is deposited as intracellular aggregates in affected brain regions. Despite the controversial role of ataxin-3 amyloid structures in SCA3 pathology, the identification of molecules with the capacity to prevent aberrant self-assembly and stabilize functional conformation(s) of ataxin-3 is a key to the development of therapeutic solutions. Amyloid-specific kinetic assays are routinely used to measure rates of protein self-assembly in vitro and are employed during screening for fibrillation inhibitors. The high tendency of ataxin-3 to assemble into oligomeric structures implies that minor changes in experimental conditions can modify ataxin-3 amyloid assembly kinetics. Here, we determine the self-association rates of ataxin-3 and present a detailed study of the aggregation of normal and pathogenic ataxin-3, highlighting the experimental conditions that should be considered when implementing and validating ataxin-3 amyloid progress curves in different settings and in the presence of ataxin-3 interactors. This assay provides a unique and robust platform to screen for modulators of the first steps of ataxin-3 aggregation-a starting point for further studies with cell and animal models of SCA3.
脊髓小脑共济失调 3 型(SCA3)是由蛋白 ataxin-3 中的谷氨酰胺重复扩展引起的,该蛋白在受影响的大脑区域中沉积为细胞内聚集体。尽管 ataxin-3 淀粉样结构在 SCA3 病理学中的作用存在争议,但鉴定具有防止异常自组装和稳定 ataxin-3 功能构象的能力的分子是开发治疗方法的关键。淀粉样蛋白特异性动力学测定法通常用于测量体外蛋白质自组装的速率,并在筛选纤维抑制剂时使用。ataxin-3 高度倾向于组装成寡聚结构,这意味着实验条件的微小变化可以改变 ataxin-3 淀粉样蛋白组装动力学。在这里,我们确定了 ataxin-3 的自缔合速率,并对正常和致病性 ataxin-3 的聚集进行了详细研究,强调了在不同环境中和存在 ataxin-3 相互作用物时实施和验证 ataxin-3 淀粉样蛋白进展曲线时应考虑的实验条件。该测定法提供了一个独特而强大的平台,可用于筛选 ataxin-3 聚集的第一步调节剂-这是进一步研究 SCA3 的细胞和动物模型的起点。