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突触核蛋白家族。

The synuclein family.

作者信息

Lavedan C

机构信息

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892

出版信息

Genome Res. 1998 Sep;8(9):871-80. doi: 10.1101/gr.8.9.871.

Abstract

The synuclein gene family recently came into the spotlight, when one of its members, alpha-synuclein, was found to be mutated in several families with autosomal dominant Parkinson's disease (PD). A peptide of the alpha-synuclein protein had been characterized previously as a major component of amyloid plaques in brains of patients with Alzheimer's disease (AD). The mechanism by which this presynaptic protein is involved in the two most common neurodegenerative disorders, AD and PD, remains unclear. Remarkably, another member of this gene family, gamma-synuclein, has been shown to be overexpressed in breast carcinomas and may also be overexpressed in ovarian cancer. The possible involvement of the synuclein proteins in the etiology of common human diseases has raised exciting questions and is the subject of intense investigation. Details of the properties of any member of the synuclein family may provide useful information for understanding the characteristics and function of other family members. The present review offers a synopsis of the current state of knowledge of all synuclein family members in different species.

摘要

当突触核蛋白基因家族的一个成员α-突触核蛋白在几个患常染色体显性帕金森病(PD)的家族中被发现发生突变时,该基因家族最近受到了关注。α-突触核蛋白的一种肽先前已被鉴定为阿尔茨海默病(AD)患者大脑中淀粉样斑块的主要成分。这种突触前蛋白参与两种最常见的神经退行性疾病AD和PD的机制仍不清楚。值得注意的是,该基因家族的另一个成员γ-突触核蛋白已被证明在乳腺癌中过表达,也可能在卵巢癌中过表达。突触核蛋白在常见人类疾病病因中的可能作用引发了令人兴奋的问题,并且是深入研究的主题。突触核蛋白家族任何一个成员的特性细节可能为理解其他家族成员的特征和功能提供有用信息。本综述概述了不同物种中所有突触核蛋白家族成员的当前知识状态。

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