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遗传和非遗传帕金森病中的线粒体功能障碍

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.

作者信息

Lucchesi Martina, Biso Letizia, Bonaso Marco, Longoni Biancamaria, Buchignani Bianca, Battini Roberta, Santorelli Filippo Maria, Doccini Stefano, Scarselli Marco

机构信息

Department of Biology, University of Pisa, 56127 Pisa, Italy.

Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, 56126 Pisa, Italy.

出版信息

Int J Mol Sci. 2025 May 7;26(9):4451. doi: 10.3390/ijms26094451.

DOI:10.3390/ijms26094451
PMID:40362688
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12072996/
Abstract

Mitochondrial dysfunction is a hallmark of Parkinson's disease (PD) pathogenesis, contributing to increased oxidative stress and impaired endo-lysosomal-proteasome system efficiency underlying neuronal injury. Genetic studies have identified 19 monogenic mutations-accounting for ~10% of PD cases-that affect mitochondrial function and are associated with early- or late-onset PD. Early-onset forms typically involve genes encoding proteins essential for mitochondrial quality control, including mitophagy and structural maintenance, while late-onset mutations impair mitochondrial dynamics, bioenergetics, and trafficking. Atypical juvenile genetic syndromes also exhibit mitochondrial abnormalities. In idiopathic PD, environmental neurotoxins such as pesticides and MPTP act as mitochondrial inhibitors, disrupting complex I activity and increasing reactive oxygen species. These converging pathways underscore mitochondria as a central node in PD pathology. This review explores the overlapping and distinct mitochondrial mechanisms in genetic and non-genetic PD, emphasizing their role in neuronal vulnerability. Targeting mitochondrial dysfunction finally offers a promising therapeutic avenue to slow or modify disease progression by intervening at a key point of neurodegenerative convergence.

摘要

线粒体功能障碍是帕金森病(PD)发病机制的一个标志,它会导致氧化应激增加以及神经元损伤所潜在的内溶酶体-蛋白酶体系统效率受损。遗传学研究已经确定了19种单基因变异——约占PD病例的10%——这些变异影响线粒体功能,并与早发性或晚发性PD相关。早发性形式通常涉及编码线粒体质量控制所必需蛋白质的基因,包括线粒体自噬和结构维持,而晚发性突变会损害线粒体动力学、生物能量学和运输。非典型青少年遗传综合征也表现出线粒体异常。在特发性PD中,农药和MPTP等环境神经毒素作为线粒体抑制剂,破坏复合体I的活性并增加活性氧。这些汇聚的途径强调线粒体是PD病理中的一个核心节点。本综述探讨了遗传性和非遗传性PD中重叠且独特的线粒体机制,强调了它们在神经元易损性中的作用。针对线粒体功能障碍最终提供了一条有前景的治疗途径,通过在神经退行性变汇聚的关键点进行干预来减缓或改变疾病进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb14/12072996/22a13ee7475f/ijms-26-04451-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb14/12072996/ba6c843868b1/ijms-26-04451-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb14/12072996/3365c1a077b4/ijms-26-04451-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb14/12072996/22a13ee7475f/ijms-26-04451-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb14/12072996/ba6c843868b1/ijms-26-04451-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb14/12072996/3365c1a077b4/ijms-26-04451-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb14/12072996/22a13ee7475f/ijms-26-04451-g003.jpg

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本文引用的文献

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Molecular mechanisms of mitochondrial dynamics.线粒体动力学的分子机制
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