Antipova Daria, Bandopadhyay Rina
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, 1, Wakefield Street, WC1N 1PJ, London, UK.
Adv Exp Med Biol. 2017;1037:25-43. doi: 10.1007/978-981-10-6583-5_3.
In 2003, autosomal recessive loss-of-function mutations were identified in PARK7 gene that caused early-onset Parkinson's disease (PD). The PARK7 gene encodes a conserved protein termed DJ-1. DJ-1 is a ubiquitous protein, and within the brain, it is present in the nucleus and cytoplasm of both neuronal and glial cells. DJ-1 is a multifunctional protein, and numerous studies have ascribed various roles, including antioxidative properties, chaperone function, protease activities, mitochondrial functions and regulation of transcription to the protein. The DJ-1 protein undergoes oxidation and post-translational modifications that are important for its function. Not only is DJ-1 linked to familial PD, but it is also associated with the pathogenic mechanisms of sporadic PD and other neurodegenerative disorders where oxidative stress is implicated. In this chapter we provide an overview on the expression of DJ-1 mRNA and protein in different neurodegenerative disorders and discuss some of its main functions together with DJ-1's potential for neuroprotection.
2003年，在PARK7基因中发现了常染色体隐性功能丧失突变，该突变导致早发性帕金森病（PD）。PARK7基因编码一种名为DJ-1的保守蛋白。DJ-1是一种普遍存在的蛋白，在大脑中，它存在于神经元和神经胶质细胞的细胞核和细胞质中。DJ-1是一种多功能蛋白，许多研究赋予了该蛋白多种作用，包括抗氧化特性、分子伴侣功能、蛋白酶活性、线粒体功能以及转录调控。DJ-1蛋白会发生氧化和翻译后修饰，这些修饰对其功能很重要。DJ-1不仅与家族性PD有关，还与散发性PD和其他涉及氧化应激的神经退行性疾病的致病机制有关。在本章中，我们概述了DJ-1 mRNA和蛋白在不同神经退行性疾病中的表达，并讨论了其一些主要功能以及DJ-1的神经保护潜力。
