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Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA

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Abstract

Purpose of Review

Overwhelming evidence indicates that mitochondrial dysfunction is a central factor in Parkinson’s disease (PD) pathophysiology. This paper aims to review the latest literature published, focusing on genetic defects and expression alterations affecting mitochondria-associated genes, in support of their key role in PD pathogenesis.

Recent Findings

Thanks to the use of new omics approaches, a growing number of studies are discovering alterations affecting genes with mitochondrial functions in patients with PD and parkinsonisms. These genetic alterations include pathogenic single-nucleotide variants, polymorphisms acting as risk factors, and transcriptome modifications, affecting both nuclear and mitochondrial genes.

Summary

We will focus on alterations of mitochondria-associated genes described by studies conducted on patients or on animal/cellular models of PD or parkinsonisms. We will comment how these findings can be taken into consideration for improving the diagnostic procedures or for deepening our knowledge on the role of mitochondrial dysfunctions in PD.

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This work was partially supported by the Italian Ministry of Health (RRC).

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  1. Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Libero Temolo 4, 20126, Milan, Italy

    A. Legati & D. Ghezzi

  2. Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122, Milan, Italy

    D. Ghezzi

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Legati, A., Ghezzi, D. Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA. Curr Neurol Neurosci Rep 23, 131–147 (2023). https://doi.org/10.1007/s11910-023-01260-8

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