Suppr超能文献

帕金森病中由LRRK2介导的线粒体功能障碍

LRRK2-mediated mitochondrial dysfunction in Parkinson's disease.

作者信息

Buck Silas A, Sanders Laurie H

机构信息

Departments of Neurology and Pathology, Duke University School of Medicine, Durham, NC 27710, U.S.A.

Duke Center for Neurodegeneration and Neurotherapeutics, Duke University, Durham, NC 27710, U.S.A.

出版信息

Biochem J. 2025 May 28;482(11):BCJ20253062. doi: 10.1042/BCJ20253062.

Abstract

Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor symptoms including tremor, rigidity, and bradykinesia as well as degeneration of dopamine (DA) neurons in the substantia nigra pars compacta (SNc). A minority of PD cases are familial and are caused by a single genetic mutation. One of the most common PD-causing genes is leucine-rich repeat kinase 2 (LRRK2), which causes an autosomal dominant PD that presents very similarly to sporadic PD. Pathogenic mutations in LRRK2 increase its kinase activity, indicated by both LRRK2 autophosphorylation and phosphorylation of its substrates. To date, the mechanism(s) by which elevated LRRK2 kinase activity induces DA neuron degeneration and PD has not been fully elucidated. One potential mechanism may involve the role of LRRK2 on mitochondria, as mitochondrial dysfunction has been linked to PD pathogenesis, and exciting recent evidence has connected PD pathogenic mutations in LRRK2 to multiple aspects of mitochondrial dysfunction associated with the disease. In this review, we discuss the current knowledge implicating LRRK2 in mitochondrial energetics, oxidative stress, genome integrity, fission/fusion, mitophagy, and ion/protein transport in PD, as well as examine the potential role LRRK2 may play in mediating the effects of mitochondrial therapeutics being investigated for treatment of PD.

摘要

帕金森病(PD)是一种神经退行性疾病,其特征为运动症状,包括震颤、僵硬和运动迟缓,以及黑质致密部(SNc)中多巴胺(DA)神经元的退化。少数帕金森病病例为家族性,由单一基因突变引起。最常见的导致帕金森病的基因之一是富含亮氨酸重复激酶2(LRRK2),它会导致常染色体显性帕金森病,其表现与散发性帕金森病非常相似。LRRK2中的致病突变会增加其激酶活性,这在LRRK2自身磷酸化及其底物的磷酸化中均有体现。迄今为止,LRRK2激酶活性升高诱导DA神经元退化和帕金森病的机制尚未完全阐明。一种潜在机制可能涉及LRRK2在线粒体中的作用,因为线粒体功能障碍与帕金森病发病机制有关,并且最近有令人兴奋的证据将LRRK2中的帕金森病致病突变与该疾病相关的线粒体功能障碍的多个方面联系起来。在这篇综述中,我们讨论了目前关于LRRK2在帕金森病中线粒体能量代谢、氧化应激、基因组完整性、裂变/融合、线粒体自噬以及离子/蛋白质转运方面的相关知识,同时探讨了LRRK2在介导正在研究的用于治疗帕金森病的线粒体疗法的作用方面可能发挥的潜在作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3664/12203973/4d33394eaa8e/BCJ-482-11-BCJ20253062-g001.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验