Molecular Physiology and Biophysics Unit, Department of Biology, University of Padova, 35131 Padova, Italy.
MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.
Hum Mol Genet. 2018 May 1;27(9):1618-1629. doi: 10.1093/hmg/ddy069.
Reactive oxygen species exert important functions in regulating several cellular signalling pathways. However, an excessive accumulation of reactive oxygen species can perturb the redox homeostasis leading to oxidative stress, a condition which has been associated to many neurodegenerative disorders. Accordingly, alterations in the redox state of cells and mitochondrial homeostasis are established hallmarks in both familial and sporadic Parkinson's disease cases. PINK1 and Parkin are two genes which account for a large fraction of autosomal recessive early-onset forms of Parkinson's disease and are now firmly associated to both mitochondria and redox homeostasis. In this study we explored the hypothesis that superoxide anions participate in the generation of the Parkin and PINK1 associated phenotypic effect by testing the capacity of endogenous and exogenous superoxide dismutating molecules to rescue the toxic effects induced by loss of PINK1 or Parkin, in both cellular and fly models. Our results demonstrate the positive effect of an increased level of superoxide dismutase proteins on the pathological phenotypes, both in vitro and in vivo. A more pronounced effectiveness for mitochondrial SOD2 activity points to the superoxide radicals generated in the mitochondrial matrix as the prime suspect in the definition of the observed phenotypes. Moreover, we also demonstrate the efficacy of a SOD-mimetic compound, M40403, to partially ameliorate PINK1/Parkin phenotypes in vitro and in vivo. These results support the further exploration of SOD-mimetic compounds as a therapeutic strategy against Parkinson's disease.
活性氧在调节多种细胞信号通路方面发挥着重要作用。然而,活性氧的过度积累会破坏氧化还原平衡,导致氧化应激,这种情况与许多神经退行性疾病有关。因此,细胞内氧化还原状态和线粒体平衡的改变是家族性和散发性帕金森病病例的标志性特征。PINK1 和 Parkin 是两种基因,它们占常染色体隐性早发性帕金森病的很大一部分,现在与线粒体和氧化还原平衡密切相关。在这项研究中,我们通过测试内源性和外源性超氧化物歧化酶分子是否能够挽救 PINK1 或 Parkin 缺失引起的毒性作用,来验证超氧阴离子是否参与产生 Parkin 和 PINK1 相关表型效应的假设,这在细胞和果蝇模型中都得到了验证。我们的结果表明,增加超氧化物歧化酶蛋白的水平对病理性表型具有积极影响,无论是在体外还是在体内。线粒体 SOD2 活性的作用更为明显,表明在线粒体基质中产生的超氧自由基是定义所观察到的表型的主要原因。此外,我们还证明了 SOD 模拟化合物 M40403 在体外和体内部分改善 PINK1/Parkin 表型的功效。这些结果支持进一步探索 SOD 模拟化合物作为治疗帕金森病的一种治疗策略。