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Alpha-Synuclein in Parkinsons Disease: From Pathogenetic Dysfunction to Potential Clinical Application

机译:帕金森氏病中的α-突触核蛋白:从致病功能障碍到潜在的临床应用。

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摘要

Parkinson's disease is a neurodegenerative disease/synucleinopathy that develops slowly; however, there is no efficient method of early diagnosis, nor is there a cure. Progressive dopaminergic neuronal cell loss in the substantia nigra pars compacta and widespread aggregation of the α-synuclein protein (encoded by the SNCA gene) in the form of Lewy bodies and Lewy neurites are the neuropathological hallmarks of Parkinson's disease. The SNCA gene has undergone gene duplications, triplications, and point mutations. However, the specific mechanism of α-synuclein in Parkinson's disease remains obscure. Recent research showed that various α-synuclein oligomers, pathological aggregation, and propagation appear to be harmful in certain areas in Parkinson's disease patients. This review summarizes our current knowledge of the pathogenetic dysfunction of α-synuclein associated with Parkinson's disease and highlights current approaches that seek to develop this protein as a possible diagnostic biomarker and therapeutic target.
机译:帕金森氏病是一种神经退行性疾病/突触核病,发展缓慢。但是,没有有效的早期诊断方法,也没有治愈方法。帕金森氏病的神经病理学标志是黑质致密性进行性多巴胺能神经元细胞丧失和以路易体和路易神经突形式出现的α-突触核蛋白蛋白(由SNCA基因编码)的广泛聚集。 SNCA基因已经经历了基因重复,三重复和点突变。但是,α-突触核蛋白在帕金森氏病中的具体机制仍然不清楚。最近的研究表明,在帕金森氏病患者的某些区域,各种α-突触核蛋白低聚物,病理聚集和繁殖似乎有害。这篇综述总结了我们目前对与帕金森氏病相关的α-突触核蛋白的致病性功能障碍的认识,并着重介绍了寻求将这种蛋白质开发为可能的诊断生物标志物和治疗靶标的当前方法。

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