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[遗传学在突触核蛋白病病因学中的作用]

[Role of genetics in the etiology of synucleinopathies].

作者信息

Elcoroaristizabal Martín Xabier, Gómez Busto Fernando, González Fernández M C, de Pancorbo Marian M

机构信息

Grupo de Investigación BIOMICS, Departamento de Biología Celular A, Centro de Investigación y Estudios Avanzados Lucio Lascaray, Universidad del País Vasco UPV/EHU, Vitoria-Gasteiz, España.

出版信息

Rev Esp Geriatr Gerontol. 2011 Oct;46 Suppl 1:3-11. doi: 10.1016/j.regg.2011.10.002.

Abstract

The protein family known as synucleins is composed of α-, β- and γ-synuclein. The most widely studied is the α-synuclein protein due to its participation in essential processes of the central nervous system. Neurotoxicity of this protein is related to the presence of multiplications (duplications and triplications) and point mutations in the gene sequence of the α-synuclein gene (SNCA), differential expression of its isoforms and variations in post-transductional modifications. Neurotoxicity is also related to cytoplasmic inclusions known as Lewy bodies (LBs) and Lewy neurites (LNs), which are also present in α-synucleinopathies. In general, the β-synuclein protein, codified by the SNCB gene, acts as a regulator of processes triggered by α-synuclein and its function is altered by variations in the gene sequence, while γ-synuclein, codified by the SNCG gene, seems to play a major role in certain tumoral processes.

摘要

被称为突触核蛋白的蛋白质家族由α-、β-和γ-突触核蛋白组成。由于α-突触核蛋白参与中枢神经系统的重要过程,因此它是研究最广泛的蛋白质。这种蛋白质的神经毒性与α-突触核蛋白基因(SNCA)基因序列中的重复(复制和三联体)和点突变、其异构体的差异表达以及转导后修饰的变化有关。神经毒性还与称为路易小体(LBs)和路易神经突(LNs)的细胞质内含物有关,它们也存在于α-突触核蛋白病中。一般来说,由SNCB基因编码的β-突触核蛋白作为α-突触核蛋白触发过程的调节剂,其功能会因基因序列的变化而改变,而由SNCG基因编码的γ-突触核蛋白似乎在某些肿瘤过程中起主要作用。

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