Dementia Research Institute, University College London, London, UK.
Institute of Aerospace Medicine, German Aerospace Center, Cologne, Germany.
Acta Neuropathol. 2022 Apr;143(4):453-469. doi: 10.1007/s00401-022-02406-7. Epub 2022 Feb 9.
The protein α-synuclein, a key player in Parkinson's disease (PD) and other synucleinopathies, exists in different physiological conformations: cytosolic unfolded aggregation-prone monomers and helical aggregation-resistant multimers. It has been shown that familial PD-associated missense mutations within the α-synuclein gene destabilize the conformer equilibrium of physiologic α-synuclein in favor of unfolded monomers. Here, we characterized the relative levels of unfolded and helical forms of cytosolic α-synuclein in post-mortem human brain tissue and showed that the equilibrium of α-synuclein conformations is destabilized in sporadic PD and DLB patients. This disturbed equilibrium is decreased in a brain region-specific manner in patient samples pointing toward a possible "prion-like" propagation of the underlying pathology and forms distinct disease-specific patterns in the two different synucleinopathies. We are also able to show that a destabilization of multimers mechanistically leads to increased levels of insoluble, pathological α-synuclein, while pharmacological stabilization of multimers leads to a "prion-like" aggregation resistance. Together, our findings suggest that these disease-specific patterns of α-synuclein multimer destabilization in sporadic PD and DLB are caused by both regional neuronal vulnerability and "prion-like" aggregation transmission enabled by the destabilization of local endogenous α-synuclein protein.
在帕金森病(PD)和其他突触核蛋白病中,蛋白质α-突触核蛋白是一个关键角色,它存在于不同的生理构象中:细胞溶质未折叠的聚集倾向单体和螺旋聚集抗性多聚体。已经表明,α-突触核蛋白基因中的家族性 PD 相关错义突变会破坏生理α-突触核蛋白的构象平衡,有利于未折叠单体。在这里,我们描述了细胞溶质α-突触核蛋白的未折叠和螺旋形式在死后人脑组织中的相对水平,并表明α-突触核蛋白构象的平衡在散发性 PD 和 DLB 患者中被破坏。这种失衡以特定于脑区的方式在患者样本中减少,指向潜在病理学的可能“类朊病毒样”传播,并在两种不同的突触核蛋白病中形成独特的疾病特异性模式。我们还能够表明,多聚体的不稳定性会导致不溶性、病理性α-突触核蛋白水平的增加,而多聚体的药理学稳定化会导致“类朊病毒样”聚集抗性。总之,我们的发现表明,散发性 PD 和 DLB 中α-突触核蛋白多聚体不稳定性的这些疾病特异性模式是由局部神经元易感性和由局部内源性α-突触核蛋白蛋白的不稳定性引起的“类朊病毒样”聚集传播共同导致的。