State Key Laboratory of Bioactive Molecules and Druggability Assessment, Guangdong Key Laboratory of Non-human Primate Research, GHM Institute of CNS Regeneration, Jinan University, Guangzhou, China.
Hubei Topgene Biotechnological Research Institute Co., Ltd. Wuhan, China.
J Clin Invest. 2024 Oct 15;134(20):e179633. doi: 10.1172/JCI179633.
Parkinson's disease (PD) is characterized by age-dependent neurodegeneration and the accumulation of toxic phosphorylated α-synuclein (pS129-α-syn). The mechanisms underlying these crucial pathological changes remain unclear. Mutations in parkin RBR E3 ubiquitin protein ligase (PARK2), the gene encoding parkin that is phosphorylated by PTEN-induced putative kinase 1 (PINK1) to participate in mitophagy, cause early onset PD. However, current parkin-KO mouse and pig models do not exhibit neurodegeneration. In the current study, we utilized CRISPR/Cas9 technology to establish parkin-deficient monkey models at different ages. We found that parkin deficiency leads to substantia nigra neurodegeneration in adult monkey brains and that parkin phosphorylation decreases with aging, primarily due to increased insolubility of parkin. Phosphorylated parkin is important for neuroprotection and the reduction of pS129-α-syn. Consistently, overexpression of WT parkin, but not a mutant form that cannot be phosphorylated by PINK1, reduced the accumulation of pS129-α-syn. These findings identify parkin phosphorylation as a key factor in PD pathogenesis and suggest it as a promising target for therapeutic interventions.
帕金森病(PD)的特征是年龄依赖性神经退行性变和毒性磷酸化α-突触核蛋白(pS129-α-syn)的积累。这些关键病理变化的机制尚不清楚。Parkin RBR E3 泛素蛋白连接酶(PARK2)基因的突变,该基因编码的 parkin 被磷酸化酶 1(PINK1)磷酸化参与线粒体自噬,导致早发性 PD。然而,目前的 parkin-KO 小鼠和猪模型并不表现出神经退行性变。在本研究中,我们利用 CRISPR/Cas9 技术在不同年龄建立 parkin 缺陷猴模型。我们发现 parkin 缺陷导致成年猴大脑黑质神经退行性变,并且 parkin 磷酸化随年龄增长而降低,主要是由于 parkin 的不溶性增加。磷酸化 parkin 对于神经保护和减少 pS129-α-syn 很重要。一致地,WT parkin 的过表达,而不是不能被 PINK1 磷酸化的突变形式,减少了 pS129-α-syn 的积累。这些发现确定了 parkin 磷酸化是 PD 发病机制中的关键因素,并表明它是治疗干预的有希望的靶点。
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