Department of Chemistry, The University of Texas at Austin, Austin, Texas, USA.
Protein Sci. 2024 Apr;33(4):e4951. doi: 10.1002/pro.4951.
The Parkinson's-associated protein α-synuclein (α-syn) can undergo liquid-liquid phase separation (LLPS), which typically leads to the formation of amyloid fibrils. The coincidence of LLPS and amyloid formation has complicated the identification of the molecular determinants unique to LLPS of α-syn. Moreover, the lack of strategies to selectively perturb LLPS makes it difficult to dissect the biological roles specific to α-syn LLPS, independent of fibrillation. Herein, using a combination of subtle missense mutations, we show that LLPS of α-syn is highly sensitive to its sequence complexity. In fact, we find that even a highly conservative mutation (V16I) that increases sequence complexity without perturbing physicochemical and structural properties, is sufficient to reduce LLPS by 75%; this effect can be reversed by an adjacent V-to-I mutation (V15I) that restores the original sequence complexity. A18T, a complexity-enhancing PD-associated mutation, was likewise found to reduce LLPS, implicating sequence complexity in α-syn pathogenicity. Furthermore, leveraging the differences in LLPS propensities among different α-syn variants, we demonstrate that fibrillation of α-syn does not necessarily correlate with its LLPS. In fact, we identify mutations that selectively perturb LLPS or fibrillation of α-syn, unlike previously studied mutations. The variants and design principles reported herein should therefore empower future studies to disentangle these two phenomena and distinguish their (patho)biological roles.
帕金森病相关蛋白α-突触核蛋白(α-syn)可以发生液-液相分离(LLPS),通常导致淀粉样纤维的形成。LLPS 和淀粉样形成的巧合使得确定 α-syn LLPS 特有的分子决定因素变得复杂。此外,缺乏选择性干扰 LLPS 的策略使得难以剖析与 α-syn LLPS 相关的生物学作用,而与纤维化无关。在此,我们使用微妙的错义突变组合,表明 α-syn 的 LLPS 对其序列复杂性高度敏感。事实上,我们发现即使是一个高度保守的突变(V16I),它增加了序列复杂性而不干扰物理化学和结构性质,足以使 LLPS 降低 75%;这种效应可以通过一个相邻的 V 到 I 的突变(V15I)来逆转,该突变恢复了原始序列复杂性。A18T,一种增强复杂性的 PD 相关突变,同样被发现降低了 LLPS,暗示了序列复杂性在 α-syn 致病性中的作用。此外,利用不同 α-syn 变体之间 LLPS 倾向的差异,我们证明了 α-syn 的纤维化不一定与其 LLPS 相关。事实上,我们鉴定了选择性干扰 α-syn 的 LLPS 或纤维化的突变,与以前研究的突变不同。因此,本文报道的变体和设计原则应该能够使未来的研究能够解开这两种现象,并区分它们的(病理)生物学作用。