Neurochemistry Laboratory, 1st Department of Neurology and Movement Disorders, Medical School, Aeginition Hospital, National and Kapodistrian University of Athens, Athens, Greece; Neuroscience Laboratory, Center for Basic Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
Adv Clin Chem. 2021;103:97-134. doi: 10.1016/bs.acc.2020.08.007. Epub 2020 Oct 20.
Neurodegenerative diseases are a heterogeneous group of disorders characterized by gradual progressive neuronal loss in the central nervous system. Unfortunately, the pathogenesis of many of these diseases remains unknown. Synucleins are a family of small, highly charged proteins expressed predominantly in neurons. Following their discovery, much has been learned about their structure, function, interaction with other proteins and role in neurodegenerative disease over the last two decades. One of these proteins, α-Synuclein (α-Syn), appears to be involved in many neurodegenerative disorders. These include Parkinson's disease (PD), dementia with Lewy bodies (DLB), Rapid Eye Movement Sleep Behavior Disorder (RBD) and Pure Autonomic Failure (PAF), i.e., collectively termed α-synucleinopathies. This review focuses on α-Syn dysfunction in neurodegeneration and assesses its role in synucleinopathies from a biochemical, genetic and neuroimaging perspective.
神经退行性疾病是一组异质性疾病，其特征是中枢神经系统中神经元逐渐进行性丧失。不幸的是，这些疾病中的许多发病机制仍然未知。突触核蛋白是一族小而带电荷的蛋白质，主要在神经元中表达。在发现它们之后，在过去的二十年中，人们对它们的结构、功能、与其他蛋白质的相互作用以及在神经退行性疾病中的作用有了更多的了解。其中一种蛋白质，α-突触核蛋白（α-Syn），似乎与许多神经退行性疾病有关。这些疾病包括帕金森病（PD）、路易体痴呆（DLB）、快速眼动睡眠行为障碍（RBD）和单纯自主神经衰竭（PAF），即统称为α-突触核蛋白病。这篇综述重点关注α-Syn 在神经退行性变中的功能障碍，并从生化、遗传和神经影像学的角度评估其在突触核蛋白病中的作用。
