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The Impact of Mitochondria on Human Disease and Health
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The Impact of Mitochondria on Human Disease and Health

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Biochemistry".

Deadline for manuscript submissions: 20 September 2025 | Viewed by 1413

Special Issue Editor

Dr. Martina Semenzato

E-Mail Website
Guest Editor
1. Fondazione Per La Ricerca Biomedica Avanzata, Venetian Institute of Molecular Medicine (VIMM), Via Orus 2, Padova, Italy
2. Department of Biology, University of Padua, Via U. Bassi 58/B, 35121 Padua, Italy
Interests: mitochondrial dynamics; cardiovascular diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We invite you to contribute to our upcoming scientific paper collection, “The Impact of Mitochondria on Human Disease and Health”.

This collection aims to provide a comprehensive platform for researchers to present and discuss the latest advancements in understanding the pivotal role of mitochondria in both health and disease. Given the growing recognition of mitochondria as central regulators of cellular homeostasis, metabolism, and signaling pathways, this collection seeks to shed light on the multifaceted ways in which mitochondrial biology influences human health.

Mitochondrial dysfunction has been increasingly implicated in a broad spectrum of diseases, including neurodegenerative disorders, cardiovascular conditions, metabolic syndromes, cancer, and aging-related pathologies. As such, we welcome submissions that address the various dimensions of mitochondrial function and dysfunction, from fundamental mechanistic studies to translational and clinical research. Topics of interest include, but are not limited to, mitochondrial bioenergetics, mitochondrial dynamics, mitophagy, oxidative stress, mitochondrial DNA mutations, and their contributions to the pathophysiology of human diseases.

In addition to original research papers, we encourage the submission of comprehensive review articles that synthesize current knowledge and propose new frameworks for understanding the role of mitochondria in disease progression and potential therapeutic interventions. All submissions will undergo a rigorous peer-review process to ensure the publication of high-quality, impactful research.

We look forward to your valuable contributions in shaping the future of mitochondrial research and its impact on human health.

Sincerely,

Dr. Martina Semenzato
Guest Editor

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

  • mitochondrial dysfunction
  • mitochondrial bioenergetics
  • mitochondrial dynamics
  • mitophagy
  • oxidative stress
  • mitochondrial DNA (mtDNA) mutations
  • neurodegenerative diseases
  • cardiovascular diseases
  • metabolic disorders
  • aging and mitochondria
  • cancer

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Published Papers (3 papers)

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Research

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13 pages, 2044 KiB  
Article
Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective
by Tatiana Krylova, Yulia Itkis, Polina Tsygankova, Denis Chistol, Konstantin Lyamzaev, Vyacheslav Tabakov, Svetlana Mikhaylova, Natalia Nikitina, Galina Rudenskaya, Aysylu Murtazina, Tatiana Markova, Natalia Semenova, Natalia Buchinskaya, Elena Saifullina, Hasyanya Aksyanova, Peter Sparber, Natalia Andreeva, Natalia Venediktova, Alina Ivanushkina, Daria Eliseeva, Yulia Murakhovskaya, Natalia Sheremet and Ekaterina Zakharovaadd Show full author list remove Hide full author list
Int. J. Mol. Sci. 2025, 26(10), 4565; https://doi.org/10.3390/ijms26104565 - 10 May 2025
Viewed by 213
Abstract
The m.13513G>A (p.Asp393Asn) substitution in the MT-ND5 (Mitochondrially Encoded NADH/Ubiquinone Oxidoreductase Core Subunit 5) gene is a common pathogenic variant associated with primary mitochondrial disorders. It frequently causes Leigh syndrome and mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS). In this study, [...] Read more.
The m.13513G>A (p.Asp393Asn) substitution in the MT-ND5 (Mitochondrially Encoded NADH/Ubiquinone Oxidoreductase Core Subunit 5) gene is a common pathogenic variant associated with primary mitochondrial disorders. It frequently causes Leigh syndrome and mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS). In this study, we present clinical data, heteroplasmy levels in various tissues (blood, urine, and skin fibroblasts), and bioenergetic characteristics from a cohort of 20 unrelated patients carrying the m.13513G>A mutation, classified according to the following phenotypes: Leigh syndrome (n = 12), MELAS (n = 2), and Leber’s hereditary optic neuropathy (LHON, n = 6). We observed a significant correlation between high respiratory ratios and heteroplasmy levels in fibroblast cell lines of the patients. Furthermore, fibroblast cell lines with heteroplasmy levels exceeding 55% exhibited markedly reduced mitochondrial membrane potential. These findings contribute to a better understanding of the clinical and bioenergetic profiles of patients with m.13513G>A-variant-related phenotypes across different heteroplasmy levels, based on data from a single genetic center. Our data suggest that even a slight shift in heteroplasmy can improve cellular function and, consequently, the patients’ phenotype, providing a solid foundation for the development of future gene therapies for mtDNA diseases. Full article
(This article belongs to the Special Issue The Impact of Mitochondria on Human Disease and Health)
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19 pages, 2971 KiB  
Article
Neanderthal and Denisovan Glutamate Dehydrogenase 2 Evolution and Clinical Significance
by Yulia A. Aleshina, Lev G. Zavileyskiy and Vasily A. Aleshin
Int. J. Mol. Sci. 2025, 26(9), 4322; https://doi.org/10.3390/ijms26094322 - 1 May 2025
Viewed by 209
Abstract
Mammalian glutamate dehydrogenase (GDH) is an indispensable metabolic enzyme. GDH duplication has led to the presence of two paralogs, GDH1 and GDH2, in apes. Multiple GDH pseudogenes are also present in the human genome. The novel GDH2, supposed to be a target of [...] Read more.
Mammalian glutamate dehydrogenase (GDH) is an indispensable metabolic enzyme. GDH duplication has led to the presence of two paralogs, GDH1 and GDH2, in apes. Multiple GDH pseudogenes are also present in the human genome. The novel GDH2, supposed to be a target of positive selection, differs from GDH1 in regulation and is believed to be tightly linked to brain development. Although the differences of modern human GDH2 from GDH2 of other apes have been studied, the evolution of ancient human GDH2 remains a blank space. The goal of this work was to elucidate GDH2 evolution in the genus Homo using the accumulated data on the ancient genomes with high coverage—three Neanderthal and one Denisovan genome. Such analysis clarifies the difference between GDH2 of the last common ancestor of humans and chimpanzees and all Homo to be in M468L substitution, localized in the regulatory “antenna” region of the protein. A few novel missense mutations have been found in Denisovan and Altai Neanderthal GDH2, namely R76H, present in both genomes, and Denisovan-specific T154P, I358L, and S498A substitutions. Another mutation, R352K, has likely occurred independently in modern humans and later Neanderthals. The potential impact of these mutations was estimated using GDH2 structural data and evidence from contemporary medical data. All substitutions are supposed to be benign, with only the S498A GDH2 substitution connected to Parkinson’s disease with late onset. Additionally, the ancient genomes were revealed to have all GDH pseudogenes present in modern humans, including the RNA-coding ones. The GLUD1P3 RNA expression was found to correlate negatively with GDH1 in human tissues. A possible regulatory role has been proposed, and the GLUD1P3 RNA sequence identity in all the studied human genomes suggests its conservation in the genus Homo. Full article
(This article belongs to the Special Issue The Impact of Mitochondria on Human Disease and Health)
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Review

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34 pages, 11006 KiB  
Review
A New Perspective on the Role of Alterations in Mitochondrial Proteins Involved in ATP Synthesis and Mobilization in Cardiomyopathies
by Melissa Vázquez-Carrada, María Magdalena Vilchis-Landeros, Héctor Vázquez-Meza, Daniel Uribe-Ramírez and Deyamira Matuz-Mares
Int. J. Mol. Sci. 2025, 26(6), 2768; https://doi.org/10.3390/ijms26062768 - 19 Mar 2025
Viewed by 665
Abstract
The heart requires a continuous energy supply to sustain its unceasing contraction–relaxation cycle. Mitochondria, a double-membrane organelle, generate approximately 90% of cellular energy as adenosine triphosphate (ATP) through oxidative phosphorylation, utilizing the electrochemical gradient established by the respiratory chain. Mitochondrial function is compromised [...] Read more.
The heart requires a continuous energy supply to sustain its unceasing contraction–relaxation cycle. Mitochondria, a double-membrane organelle, generate approximately 90% of cellular energy as adenosine triphosphate (ATP) through oxidative phosphorylation, utilizing the electrochemical gradient established by the respiratory chain. Mitochondrial function is compromised by damage to mitochondrial DNA, including point mutations, deletions, duplications, or inversions. Additionally, disruptions to proteins associated with mitochondrial membranes regulating metabolic homeostasis can impair the respiratory chain’s efficiency. This results in diminished ATP production and increased generation of reactive oxygen species. This review provides an overview of mutations affecting mitochondrial transporters and proteins involved in mitochondrial energy synthesis, particularly those involved in ATP synthesis and mobilization, and it examines their role in the pathogenesis of specific cardiomyopathies. Full article
(This article belongs to the Special Issue The Impact of Mitochondria on Human Disease and Health)
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