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Mitochondrial Dysfunction: A Metabolic, Cardiovascular, Neurodegenerative and Neuromuscular Issue 2.0
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Mitochondrial Dysfunction: A Metabolic, Cardiovascular, Neurodegenerative and Neuromuscular Issue 2.0

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 May 2024 | Viewed by 2616

Special Issue Editors

Dr. Stefano Doccini

E-Mail Website
Guest Editor
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy
Interests: bioenrgetics; mitochondrial disorders; omics; bioinformatics; neurosciences; in vitro disease models; biomarker discovery; biochemical pathways; diagnostic and therapeutic targets
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

Related Special Issue

Published Papers (2 papers)

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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 2 | Viewed by 887
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 2.0)
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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
Viewed by 1431
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 2.0)
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