Bonavita Raffaella, Di Martino Rosaria, Cortone Giuseppe, Prodomo Antonello, Di Gennaro Mariagrazia, Scerra Gianluca, Panico Valentino, Nuzzo Silvia, Salvatore Marco, Williams Sarah V, Vitale Fulvia, Caporaso Maria Gabriella, D'Agostino Massimo, Pisani Francesca M, Fleming Angeleen, Renna Maurizio
Department of Molecular Medicine and Medical Biotechnologies, University of Naples "Federico II", Naples, Italy.
Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.
Front Mol Biosci. 2024 Jun 27;11:1420691. doi: 10.3389/fmolb.2024.1420691. eCollection 2024.
Conformational diseases, such as Alzheimer's, Parkinson's and Huntington's diseases as well as ataxias and fronto-temporal disorders, are part of common class of neurological disorders characterised by the aggregation and progressive accumulation of mutant proteins which display aberrant conformation. In particular, Huntington's disease (HD) is caused by mutations leading to an abnormal expansion in the polyglutamine (poly-Q) tract of the huntingtin protein (HTT), leading to the formation of inclusion bodies in neurons of affected patients. Furthermore, recent experimental evidence is challenging the conventional view of the disease by revealing the ability of mutant HTT to be transferred between cells by means of extracellular vesicles (EVs), allowing the mutant protein to seed oligomers involving both the mutant and wild type forms of the protein. There is still no successful strategy to treat HD. In addition, the current understanding of the biological processes leading to the oligomerization and aggregation of proteins bearing the poly-Q tract has been derived from studies conducted on isolated poly-Q monomers and oligomers, whose structural properties are still unclear and often inconsistent. Here we describe a standardised biochemical approach to analyse by isopycnic ultracentrifugation the oligomerization of the N-terminal fragment of mutant HTT. The dynamic range of our method allows one to detect large and heterogeneous HTT complexes. Hence, it could be harnessed for the identification of novel molecular determinants responsible for the aggregation and the prion-like spreading properties of HTT in the context of HD. Equally, it provides a tool to test novel small molecules or bioactive compounds designed to inhibit the aggregation of mutant HTT.
构象性疾病,如阿尔茨海默病、帕金森病、亨廷顿舞蹈症以及共济失调和额颞叶疾病,是一类常见的神经疾病,其特征是突变蛋白发生聚集并逐渐积累,这些蛋白呈现异常构象。特别是,亨廷顿舞蹈症(HD)是由突变导致亨廷顿蛋白(HTT)的聚谷氨酰胺(poly-Q)序列异常扩增引起的,导致受影响患者的神经元中形成包涵体。此外,最近的实验证据对该疾病的传统观点提出了挑战,揭示了突变型HTT能够通过细胞外囊泡(EVs)在细胞间转移,使突变蛋白能够引发涉及该蛋白突变型和野生型形式的寡聚体。目前仍没有治疗HD的成功策略。此外,目前对导致携带poly-Q序列的蛋白质寡聚化和聚集的生物学过程的理解,来自于对分离的poly-Q单体和寡聚体进行的研究,其结构特性仍不清楚且常常不一致。在这里,我们描述了一种标准化的生化方法,通过等密度超速离心分析突变型HTT N端片段的寡聚化。我们方法的动态范围允许检测大的和异质性的HTT复合物。因此,它可用于鉴定在HD背景下负责HTT聚集和类朊病毒传播特性的新分子决定因素。同样,它提供了一个工具来测试旨在抑制突变型HTT聚集的新型小分子或生物活性化合物。