ijms-logo

Journal Browser

Journal Browser

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: 20 June 2025 | Viewed by 2086

Special Issue Editors


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

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

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Review

Jump to: Other

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
Viewed by 640
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)
Show Figures

Figure 1

Other

Jump to: Review

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 763
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)
Show Figures

Figure 1

Back to TopTop