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Molecular Mechanisms of Mitochondrial Diseases
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Molecular Mechanisms of Mitochondrial Diseases

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (25 September 2023) | Viewed by 4113

Special Issue Editors

Dr. Cécile Rouzier

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Guest Editor
Department of Medical Genetics, Université Côte d'Azur, Nice Teaching Hospital (CHU de Nice), National Centre for Mitochondrial Diseases, Nice, France
Interests: genetics; mitochondrial disorders; metabolic disorders; neurology
Dr. Véronique Paquis-Flucklinger

E-Mail
Guest Editor
Department of Medical Genetics, Université Côte d'Azur, Nice Teaching Hospital (CHU de Nice), National Centre for Mitochondrial Diseases, Nice, France
Interests: genetics; mitochondrial disorders; metabolic disorders; therapeutic strategies; mitochondrial dynamics

Special Issue Information

Dear Colleagues, 

Mitochondrial disorders are clinically and genetically heterogeneous diseases, their primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS). More than 1500 proteins encoded by both mitochondrial and nuclear genomes are required to operate the many pathways that ensure the functioning of the bioenergetic organisms that are the mitochondria. Next-generation sequencing (NGS) and, more recently, “omics” studies have enabled significant advances in the understanding of the molecular mechanisms driving disorders, which makes it possible to consider new treatments and better outcomes for patients.

The purpose of this Special Issue of Genes is to highlight the current trends in the characterization of new genes and pathomechanisms involved in mitochondrial disorders. This Special Issue welcomes studies in the field of mitochondrial disease diagnosis, using NGS, ‘omics’ approaches, such as transcriptomics, proteomics, or metabolomics, and/or model systems to enable the establishment of disease etiology. In addition, articles on emerging treatment strategies, the generation of models, including IPS cells and organoids, and the identification of new biomarkers are welcome.

Dr. Cécile Rouzier
Dr. Véronique Paquis-Flucklinger
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

 

Keywords

  • mitochondrial diseases
  • mitochondrial dysfunction
  • mitochondrial DNA
  • next-generation sequencing technologies
  • novel mitochondrial gene discovery
  • ‘omics’ studies (genomics, transcriptomics, proteomics, metabolomics, etc.)
  • animal models, IPS cells, and organoids
  • respiratory chain
  • bioenergetics
  • emerging therapeutic strategies

Published Papers (2 papers)

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Research

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24 pages, 4568 KiB  
Article
Examining Sporadic Cancer Mutations Uncovers a Set of Genes Involved in Mitochondrial Maintenance
by Armando Moreno, Allison Taffet, Elissa Tjahjono, Quinton L. Anderson and Natalia V. Kirienko
Genes 2023, 14(5), 1009; https://doi.org/10.3390/genes14051009 - 29 Apr 2023
Viewed by 1348
Abstract
Mitochondria are key organelles for cellular health and metabolism and the activation of programmed cell death processes. Although pathways for regulating and re-establishing mitochondrial homeostasis have been identified over the past twenty years, the consequences of disrupting genes that regulate other cellular processes, [...] Read more.
Mitochondria are key organelles for cellular health and metabolism and the activation of programmed cell death processes. Although pathways for regulating and re-establishing mitochondrial homeostasis have been identified over the past twenty years, the consequences of disrupting genes that regulate other cellular processes, such as division and proliferation, on affecting mitochondrial function remain unclear. In this study, we leveraged insights about increased sensitivity to mitochondrial damage in certain cancers, or genes that are frequently mutated in multiple cancer types, to compile a list of candidates for study. RNAi was used to disrupt orthologous genes in the model organism Caenorhabditis elegans, and a series of assays were used to evaluate these genes’ importance for mitochondrial health. Iterative screening of ~1000 genes yielded a set of 139 genes predicted to play roles in mitochondrial maintenance or function. Bioinformatic analyses indicated that these genes are statistically interrelated. Functional validation of a sample of genes from this set indicated that disruption of each gene caused at least one phenotype consistent with mitochondrial dysfunction, including increased fragmentation of the mitochondrial network, abnormal steady-state levels of NADH or ROS, or altered oxygen consumption. Interestingly, RNAi-mediated knockdown of these genes often also exacerbated α-synuclein aggregation in a C. elegans model of Parkinson’s disease. Additionally, human orthologs of the gene set showed enrichment for roles in human disorders. This gene set provides a foundation for identifying new mechanisms that support mitochondrial and cellular homeostasis. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Mitochondrial Diseases)
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Review

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30 pages, 1414 KiB  
Review
Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis
by Emmanuelle C. Genin, Mélanie Abou-Ali and Véronique Paquis-Flucklinger
Genes 2023, 14(11), 1981; https://doi.org/10.3390/genes14111981 - 24 Oct 2023
Cited by 3 | Viewed by 2360
Abstract
Mitochondrial dysfunction occurs in numerous neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS), where it contributes to motor neuron (MN) death. Of all the factors involved in ALS, mitochondria have been considered as a major player, as secondary mitochondrial dysfunction has been found in [...] Read more.
Mitochondrial dysfunction occurs in numerous neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS), where it contributes to motor neuron (MN) death. Of all the factors involved in ALS, mitochondria have been considered as a major player, as secondary mitochondrial dysfunction has been found in various models and patients. Abnormal mitochondrial morphology, defects in mitochondrial dynamics, altered activities of respiratory chain enzymes and increased production of reactive oxygen species have been described. Moreover, the identification of CHCHD10 variants in ALS patients was the first genetic evidence that a mitochondrial defect may be a primary cause of MN damage and directly links mitochondrial dysfunction to the pathogenesis of ALS. In this review, we focus on the role of mitochondria in ALS and highlight the pathogenic variants of ALS genes associated with impaired mitochondrial functions. The multiple pathways demonstrated in ALS pathogenesis suggest that all converge to a common endpoint leading to MN loss. This may explain the disappointing results obtained with treatments targeting a single pathological process. Fighting against mitochondrial dysfunction appears to be a promising avenue for developing combined therapies in the future. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Mitochondrial Diseases)
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