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Parkinson’s Disease: Assay of Phosphorylated α-Synuclein in Skin Biopsy for Early Diagnosis and Association with Melanoma

机译:帕金森氏病:皮肤活检中磷酸化α-突触核蛋白含量的测定可早期诊断并与黑色素瘤相关

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摘要

Parkinson’s disease (PD) is a degenerative disorder of the central nervous system, in which a small naturally unfolded protein α-synuclein plays an essential role. α-Synuclein belongs to a synuclein family comprising three members: α, β, and γ-synucleins associated with neurodegenerative and neoplastic diseases and involved in development. Several studies revealed that α-synuclein is present not only in the brain, but also in the skin and other peripheral tissues. This finding open a new approach to PD diagnosis based on the assay of α-synuclein from a biological sample of a living patient. Furthermore, PD is associated with an increased risk of skin melanoma. An important posttranslational modification of α-synuclein is phosphorylation at serine-129, which may convert the protein into pathological species both in PD and melanoma. Thus, analysis of phosphorylated α-synuclein might be an important diagnostic test for both diseases providing additional information about the mechanism of pathology.
机译:帕金森氏病(PD)是中枢神经系统退行性疾病,其中少量天然未折叠的蛋白质α-突触核蛋白起重要作用。 α-突触核蛋白属于一种突触核蛋白家族,包括三个成员:与神经退行性疾病和赘生性疾病有关并参与发育的α,β和γ-突触核蛋白。多项研究表明,α-突触核蛋白不仅存在于大脑中,而且还存在于皮肤和其他周围组织中。这一发现为从活着的患者的生物样品中检测到的α-突触核蛋白开辟了一种新的PD诊断方法。此外,PD与皮肤黑色素瘤的风险增加有关。 α-突触核蛋白的重要翻译后修饰是丝氨酸129处的磷酸化,可将蛋白质转变为PD和黑色素瘤中的病理物种。因此,磷酸化α-突触核蛋白的分析可能是两种疾病的重要诊断测试,可提供有关病理机制的其他信息。

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