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Mitochondrial Biology and Human Diseases
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Mitochondrial Biology and Human Diseases

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

Deadline for manuscript submissions: closed (20 June 2025) | Viewed by 3713

Special Issue Editors

Dr. Francesco Bruni

E-Mail Website
Guest Editor
Department of Biosciences, Biotechnologies and Environment, University of Bari ‘Aldo Moro’, 70121 Bari, Italy
Interests: mitochondria; mitochondrial biogenesis; mtDNA gene expression; mitoribosome
Special Issues, Collections and Topics in MDPI journals
Dr. Paola Loguercio Polosa

E-Mail Website
Guest Editor
Department of Biosciences, Biotechnologies and Environment, University of Bari ‘Aldo Moro’, 70121 Bari, Italy
Interests: mitochondrial biogenesis; mtDNA replication; mtDNA transcription; OXPHOS
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The impact of mitochondrial function in the context of cellular physiology is getting increasingly significant. Besides the most recognized role in the generation of cellular ATP by oxidative phosphorylation, mitochondria perform a wide variety of tasks ranging from the biosynthesis of essential molecules (amino acids, lipids, heme, etc.) to calcium homeostasis, cellular signalling, quality control, and programmed cell death. Moreover, these organelles own a genome functionally synchronized with the nuclear DNA. Replication, transcription, translation, and respiratory chain complex assembly are among the molecular processes occurring within mitochondria and mediating their functions in the cellular framework.

Elucidating the molecular mechanisms that underlie mitochondrial activity has therapeutic significance. Mitochondria crucially contribute to the development of various pathologies, including primary and secondary mitochondrial diseases that are clinically heterogeneous and can exhibit symptoms of varying severity. Additionally, mitochondria are implicated in the progression of numerous other health conditions such as cancer, respiratory illnesses, cardiac and vascular diseases, metabolic disorders, diabetes, neurodegenerative diseases, autism, and many more.

Our Special Issue aims to bring together high-quality research and review articles covering the aforementioned aspects of mitochondrial physiology and their link, whether direct or indirect, with human diseases.

Dr. Francesco Bruni
Dr. Paola Loguercio Polosa
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

  • mitochondria
  • mitochondrial gene expression
  • bioenergetics
  • mitochondriopathies
  • human diseases

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Published Papers (4 papers)

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Research

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19 pages, 2840 KiB  
Article
Methods for Mitochondrial DNA Damage and Depletion in Immortalized Trabecular Meshwork Cells
by Shane P. Kennedy, Emily Tsaturian, Linlin Zhao and Joshua T. Morgan
Int. J. Mol. Sci. 2025, 26(13), 6255; https://doi.org/10.3390/ijms26136255 - 28 Jun 2025
Viewed by 185
Abstract
Mitochondrial DNA (mtDNA) damage in trabecular meshwork (TM) cells occurs in open-angle glaucoma (OAG). However, current in vitro models for OAG-like changes in TM cells do not explicitly incorporate mtDNA damage. This work validated two methods of mtDNA damage in immortalized TM cells [...] Read more.
Mitochondrial DNA (mtDNA) damage in trabecular meshwork (TM) cells occurs in open-angle glaucoma (OAG). However, current in vitro models for OAG-like changes in TM cells do not explicitly incorporate mtDNA damage. This work validated two methods of mtDNA damage in immortalized TM cells and assessed OAG-associated expression changes. mtDNA was depleted in TM-1 cells via both ethidium bromide (EtBr) treatment and doxycycline (Dox) induction of a mutant (Y147A) version of Uracil DNA Glycosylase 1 (UNG1) in TM-1 cells (TM-1rtTAadv-TRE-UNG1Y147A). Levels of mitochondrial proteins (ATP5F1A, COXII, and COXIV) were measured via western blot. mtDNA levels and mRNA for OAG-associated transcripts (CTGF, FN1, PAI1, and SFRP1) were measured by qPCR. There was a statistically significant decrease in mtDNA levels per cell at all treatment times in both EtBr-treated TM-1 cells and induced TM-1rtTAadv-TRE-UNG1Y147A cells. Protein levels of ATP5F1A were not significantly changed; COXII and COXIV showed significant decreases after both EtBr and Dox induction. Both models resulted in upregulation of CTGF, FN1, and PAI1; additionally, EtBr treatment but not Dox induction resulted in SFRP1 upregulation. In conclusion, two models of mitochondrial depletion were demonstrated in immortalized TM cells; damage was associated with increases in OAG-associated transcripts, supporting a link between mitochondrial damage and glaucoma phenotypes. Full article
(This article belongs to the Special Issue Mitochondrial Biology and Human Diseases)
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15 pages, 1213 KiB  
Article
Novel Tetraene Macrodiolides Are Effective Inducers of Mitochondrial Apoptosis in Jurkat Cells
by Ilgiz I. Islamov, Lilya U. Dzhemileva, Ilgam V. Gaisin, Alexey A. Makarov, Usein M. Dzhemilev and Vladimir A. D’yakonov
Int. J. Mol. Sci. 2025, 26(11), 5139; https://doi.org/10.3390/ijms26115139 - 27 May 2025
Viewed by 340
Abstract
We synthesized 16 representatives of a new class of tetraene macrodiolides with two pharmacophore cis,cis-1,5-diene fragments of the molecule in their structure in rather high yields (from 67 to 84%), which, in turn, were synthesized by a catalytic intermolecular cyclocondensation [...] Read more.
We synthesized 16 representatives of a new class of tetraene macrodiolides with two pharmacophore cis,cis-1,5-diene fragments of the molecule in their structure in rather high yields (from 67 to 84%), which, in turn, were synthesized by a catalytic intermolecular cyclocondensation reaction of α,ω-alka-nZ,(n+4)Z-diendiols with α,ω-alka-nZ,(n+4)Z-diendioic acids using Hf(OTf)4. The synthesis of starting substrates with 1Z,5Z-diene moieties with a high degree of stereoselectivity was carried out using the authors’ original reaction of catalytic homo-cyclomagnesiation of O-containing allenes. The cytotoxic potential of the examined compounds was assessed using the following cell lines: Jurkat, K562, U937, HL60, HEK293, and Wi-38 (fibroblasts). Biological tests of the synthesized compounds showed a direct effect on mitochondrial biogenesis by the dissociation of oxidation and phosphorylation and the release of cytochrome P450 into the cell cytosol, as well as the induction of mitochondrial apoptosis. The selectivity index demonstrates significant variability, ranging from approximately 2.5 to 5.3 for Jurkat cells and from 3.0 to 5.8 for the other cell lines. Full article
(This article belongs to the Special Issue Mitochondrial Biology and Human Diseases)
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Review

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44 pages, 5114 KiB  
Review
Metabolic and Mitochondrial Dysregulations in Diabetic Cardiac Complications
by Asim J. Tashkandi, Abigail Gorman, Eva McGoldrick Mathers, Garrett Carney, Andrew Yacoub, Wiwit Ananda Wahyu Setyaningsih, Refik Kuburas and Andriana Margariti
Int. J. Mol. Sci. 2025, 26(7), 3016; https://doi.org/10.3390/ijms26073016 - 26 Mar 2025
Cited by 2 | Viewed by 1421
Abstract
The growing prevalence of diabetes highlights the urgent need to study diabetic cardiovascular complications, specifically diabetic cardiomyopathy, which is a diabetes-induced myocardial dysfunction independent of hypertension or coronary artery disease. This review examines the role of mitochondrial dysfunction in promoting diabetic cardiac dysfunction [...] Read more.
The growing prevalence of diabetes highlights the urgent need to study diabetic cardiovascular complications, specifically diabetic cardiomyopathy, which is a diabetes-induced myocardial dysfunction independent of hypertension or coronary artery disease. This review examines the role of mitochondrial dysfunction in promoting diabetic cardiac dysfunction and highlights metabolic mechanisms such as hyperglycaemia-induced oxidative stress. Chronic hyperglycaemia and insulin resistance can activate harmful pathways, including advanced glycation end-products (AGEs), protein kinase C (PKC) and hexosamine signalling, uncontrolled reactive oxygen species (ROS) production and mishandling of Ca2+ transient. These processes lead to cardiomyocyte apoptosis, fibrosis and contractile dysfunction. Moreover, endoplasmic reticulum (ER) stress and dysregulated RNA-binding proteins (RBPs) and extracellular vesicles (EVs) contribute to tissue damage, which drives cardiac function towards heart failure (HF). Advanced patient-derived induced pluripotent stem cell (iPSC) cardiac organoids (iPS-COs) are transformative tools for modelling diabetic cardiomyopathy and capturing human disease’s genetic, epigenetic and metabolic hallmarks. iPS-COs may facilitate the precise examination of molecular pathways and therapeutic interventions. Future research directions encourage the integration of advanced models with mechanistic techniques to promote novel therapeutic strategies. Full article
(This article belongs to the Special Issue Mitochondrial Biology and Human Diseases)
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14 pages, 2421 KiB  
Case Report
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene
by Concetta Valentina Tropeano, Chiara La Morgia, Alessandro Achilli, Luisa Iommarini, Gaia Tioli, Leonardo Caporali, Anna Olivieri, Maria Lucia Valentino, Rocco Liguori, Piero Barboni, Andrea Martinuzzi, Caterina Tonon, Raffaele Lodi, Antonio Torroni, Valerio Carelli and Anna Maria Ghelli
Int. J. Mol. Sci. 2025, 26(3), 1116; https://doi.org/10.3390/ijms26031116 - 27 Jan 2025
Viewed by 973
Abstract
We report on a sporadic patient suffering Leigh syndrome characterized by bilateral lesions in the lenticular nuclei and spastic dystonia, intellectual disability, sensorineural deafness, hypertrophic cardiomyopathy, exercise intolerance, and retinitis pigmentosa. Complete sequencing of mitochondrial DNA revealed the heteroplasmic nucleotide change m.15635T>C affecting [...] Read more.
We report on a sporadic patient suffering Leigh syndrome characterized by bilateral lesions in the lenticular nuclei and spastic dystonia, intellectual disability, sensorineural deafness, hypertrophic cardiomyopathy, exercise intolerance, and retinitis pigmentosa. Complete sequencing of mitochondrial DNA revealed the heteroplasmic nucleotide change m.15635T>C affecting a highly conserved amino acid position (p.Ser297Pro) in the cytochrome b (MT-CYB) gene on a haplogroup K1c1a background, which includes a set of four non-synonymous polymorphisms also present in the same gene. Biochemical studies documented respiratory chain impairment due to complex III defect. This variant fulfils the criteria for being pathogenic and was previously reported in a sporadic case of fatal neonatal polyvisceral failure. Full article
(This article belongs to the Special Issue Mitochondrial Biology and Human Diseases)
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