PINK1与相关疾病

黄阳; 母得志

doi:10.7499/j.issn.1008-8830.2016.08.021

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中国当代儿科杂志 ›› 2016, Vol. 18 ›› Issue (8) : 781-786. DOI: 10.7499/j.issn.1008-8830.2016.08.021

综述

PINK1与相关疾病

黄阳, 母得志

作者信息 +

PINK1 and the related diseases

HUANG Yang, MU De-Zhi

Author information +

文章历史 +

摘要

PINK1作为一种线粒体膜蛋白，具有蛋白激酶活性。PINK1参与了许多生物代谢过程。自发现PINK1蛋白与帕金森病相关以来，研究者一直在探究其生物学功能。PINK1位于线粒体外膜，可以通过磷酸化细胞中多种蛋白，调节细胞功能。同时PINK1与线粒体关系密切，可通过多条通路调控线粒体的形态、功能及自噬，但具体的调控方式尚未完全阐明。由于PINK1表达广泛，特别是在高能耗组织中高表达，具有多种生物学活性，因此其可能参与了多种疾病的发生发展及调控。最初发现其基因型的突变与常染色体隐性遗传性帕金森疾病的发生密切相关，近期发现其可能还与新生儿缺氧缺血性脑病、肿瘤、糖尿病等疾病的发生发展相关。深入研究PINK1的功能将有助于揭示其生物学功能，为寻找干预PINK1相关疾病的靶点奠定基础。该文就近年来PINK1生物学功能及与其相关疾病的研究进展作一综述。

Abstract

As a kind of mitochondrial membrane protein with protein kinase activity, phosphatase and tensin homolog deleted on chromosome ten induced kinase 1 (PINK1) is involved in many biological metabolic processes. Since PINK1 had been found to be associated with Parkinson's disease, researchers have been exploring its biological function. PINK1 localizes in the outer mitochondrial membrane and regulates cell function through phosphorylating proteins. PINK1 is involved in mitochondrial function, mitochondrial morphology and mitochondrial autophagy, but the regulatory pathway is not yet clear. PINK1 is expressed widely in many tissues with a variety of biological activity, especially in tissues with high energy consumption. It may therefore be involved in the development and regulation of many diseases. Mutations in PINK1 were originally discovered to cause autosomal recessive Parkinson's disease. Recently some research has revealed that PINK1 is related to the development of neonatal hypoxic-ischemic encephalopathy, cancer, diabetes and other diseases. Studying and exploring the biological functions of PINK1 will facilitate the identification of the targets for therapeutic intervention for its related diseases. This review article mainly focuses on recent studies about the biological function and related diseases of PINK1.

导出引用

黄阳, 母得志. PINK1与相关疾病[J]. 中国当代儿科杂志. 2016, 18(8): 781-786 https://doi.org/10.7499/j.issn.1008-8830.2016.08.021

HUANG Yang, MU De-Zhi. PINK1 and the related diseases[J]. Chinese Journal of Contemporary Pediatrics. 2016, 18(8): 781-786 https://doi.org/10.7499/j.issn.1008-8830.2016.08.021

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