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Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson’s Disease

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

2025International Journal of Molecular Sciences24 citationsDOIOpen Access PDF

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.

Topics & Concepts

MitophagyMitochondrionBiologyPINK1Mitochondrial DNAMitochondrial diseaseGeneticsParkinson's diseaseOxidative stressDiseaseNeurodegenerationNeuroscienceAutophagyGeneMedicinePathologyEndocrinologyApoptosisParkinson's Disease Mechanisms and TreatmentsNeurological diseases and metabolismAutophagy in Disease and Therapy
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