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Mitochondrial Dysfunction: A Metabolic, Cardiovascular, Neurodegenerative and Neuromuscular Issue: 2nd Edition

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 September 2025 | Viewed by 7673

Special Issue Editors

Dr. Stefano Doccini

E-Mail Website
Guest Editor
Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2, Calambrone, 56128 Pisa, Italy
Interests: omics; bioinformatics; neurosciences; in vitro disease models; biomarker discovery; bioenergetics; mitochondrial disorders
Special Issues, Collections and Topics in MDPI journals
Dr. Federica Morani

E-Mail Website
Guest Editor
Department of Biology, University of Pisa, 56126 Pisa, Italy
Interests: molecular mechanisms of neurodegeneration and cancer; autophagy; disease biomarkers; gene editing; omics; mitochondrial dysfunction in neurological diseases
Special Issues, Collections and Topics in MDPI journals
Dr. Claudia Nesti

E-Mail Website
Guest Editor
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy
Interests: mitochondrial function; mitochondrial disorders; NGS technology

Special Issue Information

Dear Colleagues, 

Mitochondrial diseases are a large group of genetically determined multisystem disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual genomic control of the mitochondrial proteome. The correct use of biochemical and histology testing, in combination with imaging studies, has proved helpful in genotype-phenotype correlations.

However, new therapeutic research approaches are improving our knowledge in the functions of mitochondrial genes, their expression pattern, features of gene defects or risk of transmission.

This Special Issue focuses on mitochondrial dysfunction in neurodegenerative and cardiovascular diseases, aging, cancer and signaling pathways leading to mitochondrial biogenesis and mitophagy. We will welcome original research articles, comprehensive reviews and novel communications dealing with the molecular pathways underlying the role of mitochondria in disease mechanisms or expanding genotype-phenotype correlations.

Dr. Stefano Doccini
Dr. Federica Morani
Dr. Claudia Nesti
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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

  • bioenergetics
  • mitochondrial disorders
  • biomarkers
  • OxPhos complexes
  • mitochondrial DNA
  • aging
  • neurodegenerative diseases
  • cardiovascular diseases
  • metabolic diseases
  • therapies to counteract mitochondrial dysfunction
 

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Related Special Issue

Published Papers (3 papers)

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Research

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9 pages, 2547 KiB  
Article
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting
by Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi and Rosalba Carrozzo
Int. J. Mol. Sci. 2024, 25(14), 7782; https://doi.org/10.3390/ijms25147782 - 16 Jul 2024
Cited by 2 | Viewed by 2013
Abstract
Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The DNM1L (dynamin-1 [...] Read more.
Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance of cells with high energy demand including cardiomyocytes and neurons. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of the dynamin family that is responsible for the fission of mitochondria; it is ubiquitous but highly expressed in the developing neonatal heart. De novo heterozygous pathogenic variants in the DNM1L gene have been previously reported to be associated with neonatal or infantile-onset encephalopathy characterized by hypotonia, developmental delay and refractory epilepsy. However, cardiac involvement has been previously reported only in one case. Next-Generation Sequencing (NGS) was used to genetically assess a baby girl characterized by developmental delay with spastic–dystonic, tetraparesis and hypertrophic cardiomyopathy of the left ventricle. Histochemical analysis and spectrophotometric determination of electron transport chain were performed to characterize the muscle biopsy; moreover, the morphology of mitochondria and peroxisomes was evaluated in cultured fibroblasts as well. Herein, we expand the phenotype of DNM1L-related disorder, describing the case of a girl with a heterozygous mutation in DNM1L and affected by progressive infantile encephalopathy, with cardiomyopathy and fatal paroxysmal vomiting correlated with bulbar transitory abnormal T2 hyperintensities and diffusion-weighted imaging (DWI) restriction areas, but without epilepsy. In patients with DNM1L mutations, careful evaluation for cardiac involvement is recommended. Full article
(This article belongs to the Special Issue Mitochondrial Dysfunction: A Metabolic, Cardiovascular, Neurodegenerative and Neuromuscular Issue: 2nd Edition)
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15 pages, 3703 KiB  
Article
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae
by Chenelle A. Caron-Godon, Stefania Della Vecchia, Alessandro Romano, Stefano Doccini, Flavio Dal Canto, Rosa Pasquariello, Anna Rubegni, Roberta Battini, Filippo Maria Santorelli, D. Moira Glerum and Claudia Nesti
Int. J. Mol. Sci. 2023, 24(23), 16636; https://doi.org/10.3390/ijms242316636 - 23 Nov 2023
Cited by 3 | Viewed by 1773
Abstract
Genetic defects in the nuclear encoded subunits and assembly factors of cytochrome c oxidase (mitochondrial complex IV) are very rare and are associated with a wide variety of phenotypes. Biallelic pathogenic variants in the COX11 protein were previously identified in two unrelated children [...] Read more.
Genetic defects in the nuclear encoded subunits and assembly factors of cytochrome c oxidase (mitochondrial complex IV) are very rare and are associated with a wide variety of phenotypes. Biallelic pathogenic variants in the COX11 protein were previously identified in two unrelated children with infantile-onset mitochondrial encephalopathies. Through comprehensive clinical, genetic and functional analyses, here we report on a new patient harboring novel heterozygous variants in COX11, presenting with Leigh-like features, and provide additional experimental evidence for a direct correlation between COX11 protein expression and sensitivity to oxidative stress. To sort out the contribution of the single mutations to the phenotype, we employed a multi-faceted approach using Saccharomyces cerevisiae as a genetically manipulable system, and in silico structure-based analysis of human COX11. Our results reveal differential effects of the two novel COX11 mutations on yeast growth, respiration, and cellular redox status, as well as their potential impact on human protein stability and function. Strikingly, the functional deficits observed in patient fibroblasts are recapitulated in yeast models, validating the conservation of COX11’s role in mitochondrial integrity across evolutionarily distant organisms. This study not only expands the mutational landscape of COX11-associated mitochondrial disorders but also underscores the continued translational relevance of yeast models in dissecting complex molecular pathways. Full article
(This article belongs to the Special Issue Mitochondrial Dysfunction: A Metabolic, Cardiovascular, Neurodegenerative and Neuromuscular Issue: 2nd Edition)
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Review

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15 pages, 3789 KiB  
Review
Mitochondria at the Nanoscale: Physics Meets Biology—What Does It Mean for Medicine?
by Lev Mourokh and Jonathan Friedman
Int. J. Mol. Sci. 2024, 25(5), 2835; https://doi.org/10.3390/ijms25052835 - 29 Feb 2024
Cited by 4 | Viewed by 3331
Abstract
Mitochondria are commonly perceived as “cellular power plants”. Intriguingly, power conversion is not their only function. In the first part of this paper, we review the role of mitochondria in the evolution of eukaryotic organisms and in the regulation of the human body, [...] Read more.
Mitochondria are commonly perceived as “cellular power plants”. Intriguingly, power conversion is not their only function. In the first part of this paper, we review the role of mitochondria in the evolution of eukaryotic organisms and in the regulation of the human body, specifically focusing on cancer and autism in relation to mitochondrial dysfunction. In the second part, we overview our previous works, revealing the physical principles of operation for proton-pumping complexes in the inner mitochondrial membrane. Our proposed simple models reveal the physical mechanisms of energy exchange. They can be further expanded to answer open questions about mitochondrial functions and the medical treatment of diseases associated with mitochondrial disorders. Full article
(This article belongs to the Special Issue Mitochondrial Dysfunction: A Metabolic, Cardiovascular, Neurodegenerative and Neuromuscular Issue: 2nd Edition)
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