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PINK1 在健康和疾病中的功能。

PINK1 function in health and disease.

机构信息

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N3BG, UK.

出版信息

EMBO Mol Med. 2009 Jun;1(3):152-65. doi: 10.1002/emmm.200900024.

Abstract

The role of mitochondria in sporadic Parkinson's disease (PD) has been debated for a little over 20 years since the description of complex I deficiency in the substantia nigra pars compacta (SNpc) of PD patients. However, the identification of recessive pathogenic mutations in the pink1 gene in familial PD cases firmly re-ignited interest in the pathophysiology of mitochondria in PD. PINK1 is a putative mitochondrial serine/threonine kinase, which protects cells against oxidative stress induced apoptosis. The mechanism by which this is achieved and the effect of the pathogenic mutations has been an area of intensive research over the past five years. Significant progress has been made and, in this review, we summarize the physiological roles that have been assigned to PINK1 and the potential mechanisms behind pathogenesis.

摘要

自描述帕金森病(PD)患者黑质致密部(SNpc)复合物 I 缺陷以来,线粒体在散发性 PD 中的作用已经争论了 20 多年。然而,家族性 PD 病例中发现的 pink1 基因隐性致病突变,再次强烈激发了人们对 PD 中线粒体病理生理学的兴趣。PINK1 是一种假定的线粒体丝氨酸/苏氨酸激酶,可保护细胞免受氧化应激诱导的细胞凋亡。实现这一目标的机制以及致病突变的影响,是过去五年中密集研究的领域。已经取得了重大进展,在这篇综述中,我们总结了 PINK1 的生理作用以及潜在的发病机制。

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