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Role of Mitochondria in Diseases
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Role of Mitochondria in Diseases

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: 31 July 2024 | Viewed by 3263

Special Issue Editor

Dr. Małgorzata Wojtkowska

E-Mail Website
Guest Editor
Institute of Molecular Biology and Biotechnology, Faculty of Biology, Adam Mickiewicz University, 61-614 Poznan, Poland
Interests: mitochondria

Special Issue Information

Dear Colleagues,

In eukaryotic cells, mitochondria are crucial organelles for the transformation of energy into ATP and play a pivotal role in cell life and cell death. They are subcellular organelles evolved by endosymbiosis of α proteobacteria with a necessity of delivery the most of the mitochondrial proteins from the cytosol. Mitochondria are engaged in a wide variety of mechanism of cell metabolism and aging. They participate in the regulation of redox status, ion homeostasis, cell growth and cell signalling hence mitochondria are thought to play as a signalling platform as well cell survival as in cell death. For the last decade mitochondria was studied intensively in their role in pathogenesis of many diseases as cardiovascular disorders, inflammation, cancer, diabetes, traumatic brain injury, neurologic and neurodegenerative diseases as Alzheimer and Parkinson’s disease. There are growing body of evidence on the important role of mitochondria on the mechanism of interaction of mitochondria with other cellular organelles as endoplasmic reticulum, and the Golgi apparatus and nucleus uncovering the impact of mitochondria impact on cell homeostasis.

Special Issue summarizes and discusses different aspects of mitochondrial metabolism and function that open new avenues in understanding mitochondrial biology. The goal of the proposed Special Issue, “Role of Mitochondria in Diseases” is to collect all available mechanisms of intervention into mitochondrial functioning, so as to prevent or repair unwanted changes in mitochondrial structure and function. In this Special Issue, original research articles and reviews are welcome. We look forward to receiving your contributions.

Dr. Małgorzata Wojtkowska
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.

Published Papers (4 papers)

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Research

16 pages, 1823 KiB  
Article
Effect of a 12-Week Walking Program Monitored by Global Physical Capacity Score (GPCS) on Circulating Cell-Free mtDNA and DNase Activity in Patients with Irritable Bowel Syndrome
by Guglielmina Chimienti, Francesco Russo, Antonella Bianco, Fatima Maqoud, Caterina De Virgilio, Grazia Galeano, Antonella Orlando, Giuseppe Riezzo, Benedetta D’Attoma, Antonia Ignazzi, Michele Linsalata, Laura Prospero, Isabella Franco, Claudia Beatrice Bagnato, Ritanna Curci and Sergio Coletta
Int. J. Mol. Sci. 2024, 25(8), 4293; https://doi.org/10.3390/ijms25084293 - 12 Apr 2024
Viewed by 394
Abstract
Irritable bowel syndrome (IBS) involves low-grade mucosal inflammation. Among the various approaches capable of managing the symptoms, physical activity is still under investigation. Despite its benefits, it promotes oxidative stress and inflammation. Mitochondria impacts gut disorders by releasing damage-associated molecular patterns, such as [...] Read more.
Irritable bowel syndrome (IBS) involves low-grade mucosal inflammation. Among the various approaches capable of managing the symptoms, physical activity is still under investigation. Despite its benefits, it promotes oxidative stress and inflammation. Mitochondria impacts gut disorders by releasing damage-associated molecular patterns, such as cell-free mtDNA (cf-mtDNA), which support inflammation. This study evaluated the effects of a 12-week walking program on the cf-mtDNA and DNase in 26 IBS and 17 non-IBS subjects. Pro- and anti-inflammatory cytokines were evaluated by ELISA. Digital droplet PCR was used to quantify cf-mtDNA; DNase activity was assessed using a single radial enzyme diffusion assay. PCR-RFLP was used to genotype DNASE1 rs1053874 SNP. Significantly lower IL-10 levels were found in IBS than in non-IBS individuals. Exercise reduced cf-mtDNA in non-IBS subjects but not in IBS patients. DNase activity did not correlate with the cf-mtDNA levels in IBS patients post-exercise, indicating imbalanced cf-mtDNA clearance. Different rs1053874 SNP frequencies were not found between groups. The study confirms the positive effects of regular moderate-intensity physical activity in healthy subjects and its role in cf-mtDNA release and clearance. Walking alone might not sufficiently reduce subclinical inflammation in IBS, based on imbalanced pro- and anti-inflammatory molecules. Prolonged programs are necessary to investigate their effects on inflammatory markers in IBS. Full article
(This article belongs to the Special Issue Role of Mitochondria in Diseases)
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21 pages, 4465 KiB  
Article
Trimetazidine Improves Mitochondrial Dysfunction in SOD1G93A Cellular Models of Amyotrophic Lateral Sclerosis through Autophagy Activation
by Illari Salvatori, Valentina Nesci, Alida Spalloni, Veronica Marabitti, Maurizio Muzzi, Henri Zenuni, Silvia Scaricamazza, Marco Rosina, Gianmarco Fenili, Mariangela Goglia, Laura Boffa, Roberto Massa, Sandra Moreno, Nicola Biagio Mercuri, Francesca Nazio, Patrizia Longone, Alberto Ferri and Cristiana Valle
Int. J. Mol. Sci. 2024, 25(6), 3251; https://doi.org/10.3390/ijms25063251 - 13 Mar 2024
Viewed by 879
Abstract
Amyotrophic Lateral Sclerosis (ALS) is considered the prototype of motor neuron disease, characterized by motor neuron loss and muscle waste. A well-established pathogenic hallmark of ALS is mitochondrial failure, leading to bioenergetic deficits. So far, pharmacological interventions for the disease have proven ineffective. [...] Read more.
Amyotrophic Lateral Sclerosis (ALS) is considered the prototype of motor neuron disease, characterized by motor neuron loss and muscle waste. A well-established pathogenic hallmark of ALS is mitochondrial failure, leading to bioenergetic deficits. So far, pharmacological interventions for the disease have proven ineffective. Trimetazidine (TMZ) is described as a metabolic modulator acting on different cellular pathways. Its efficacy in enhancing muscular and cardiovascular performance has been widely described, although its molecular target remains elusive. We addressed the molecular mechanisms underlying TMZ action on neuronal experimental paradigms. To this aim, we treated murine SOD1G93A-model-derived primary cultures of cortical and spinal enriched motor neurons, as well as a murine motor-neuron-like cell line overexpressing SOD1G93A, with TMZ. We first characterized the bioenergetic profile of the cell cultures, demonstrating significant mitochondrial dysfunction that is reversed by acute TMZ treatments. We then investigated the effect of TMZ in promoting autophagy processes and its impact on mitochondrial morphology. Finally, we demonstrated the effectiveness of TMZ in terms of the mitochondrial functionality of ALS-rpatient-derived peripheral blood mononuclear cells (PBMCs). In summary, our results emphasize the concept that targeting mitochondrial dysfunction may represent an effective therapeutic strategy for ALS. The findings demonstrate that TMZ enhances mitochondrial performance in motor neuron cells by activating autophagy processes, particularly mitophagy. Although further investigations are needed to elucidate the precise molecular pathways involved, these results hold critical implications for the development of more effective and specific derivatives of TMZ for ALS treatment. Full article
(This article belongs to the Special Issue Role of Mitochondria in Diseases)
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15 pages, 3334 KiB  
Article
Quantification of Circulating Cell-Free DNA in Idiopathic Parkinson’s Disease Patients
by Małgorzata Wojtkowska, Natalia Karczewska, Klaudia Pacewicz, Andrzej Pacak, Piotr Kopeć, Jolanta Florczak-Wyspiańska, Karolina Popławska-Domaszewicz, Tomasz Małkiewicz and Bartosz Sokół
Int. J. Mol. Sci. 2024, 25(5), 2818; https://doi.org/10.3390/ijms25052818 - 29 Feb 2024
Viewed by 713
Abstract
Parkinson’s disease (PD) is one of the most common neurodegenerative disorders globally and leads to an excessive loss of dopaminergic neurons in the substantia nigra of the brain. Circulating cell-free DNA (ccf-DNA) are double-stranded DNA fragments of different sizes and origins that are [...] Read more.
Parkinson’s disease (PD) is one of the most common neurodegenerative disorders globally and leads to an excessive loss of dopaminergic neurons in the substantia nigra of the brain. Circulating cell-free DNA (ccf-DNA) are double-stranded DNA fragments of different sizes and origins that are released into the serum and cerebrospinal fluid (CSF) due to cell death (i.e., necrosis and apoptosis) or are actively released by viable cells via exocytosis and NETosis. Using droplet digital polymerase chain reaction (ddPCR), we comprehensively analyzed and distinguished circulating cell-free mitochondrial DNA (ccf mtDNA) and circulating cell-free nuclear DNA (ccfDNA) in the serum and CSF of PD and control patients. The quantitative analysis of serum ccf-DNA in PD patients demonstrated a significant increase in ccf mtDNA and ccfDNA compared to that in healthy control patients and a significantly higher copy of ccf mtDNA when compared to ccfDNA. Next, the serum ccf mtDNA levels significantly increased in male PD patients compared to those in healthy male controls. Furthermore, CSF ccf mtDNA in PD patients increased significantly compared to ccfDNA, and ccf mtDNA decreased in PD patients more than it did in healthy controls. These decreases were not statistically significant but were in agreement with previous data. Interestingly, ccf mtDNA increased in healthy control patients in both serum and CSF as compared to ccfDNA. The small sample size of serum and CSF were the main limitations of this study. To the best of our knowledge, this is the first comprehensive study on serum and CSF of PD patients using ddPCR to indicate the distribution of the copy number of ccf mtDNA as well as ccfDNA. If validated, we suggest that ccf mtDNA has greater potential than ccfDNA to lead the development of novel treatments for PD patients. Full article
(This article belongs to the Special Issue Role of Mitochondria in Diseases)
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14 pages, 3083 KiB  
Article
Dysfunctional Postnatal Mitochondrial Energy Metabolism in a Patient with Neurodevelopmental Defects Caused by Intrauterine Growth Restriction Due to Idiopathic Placental Insufficiency
by Martine Uittenbogaard, Andrea L. Gropman, Matthew T. Whitehead, Christine A. Brantner, Eliana Gropman and Anne Chiaramello
Int. J. Mol. Sci. 2024, 25(3), 1386; https://doi.org/10.3390/ijms25031386 - 23 Jan 2024
Viewed by 840
Abstract
We report the case of a four-year-old male patient with a complex medical history born prematurely as the result of intrauterine growth restriction due to placental insufficiency. His clinical manifestations included severe neurodevelopmental deficits, global developmental delay, Pierre-Robin sequence, and intractable epilepsy with [...] Read more.
We report the case of a four-year-old male patient with a complex medical history born prematurely as the result of intrauterine growth restriction due to placental insufficiency. His clinical manifestations included severe neurodevelopmental deficits, global developmental delay, Pierre-Robin sequence, and intractable epilepsy with both generalized and focal features. The proband’s low levels of citrulline and lactic acidosis provoked by administration of Depakoke were evocative of a mitochondrial etiology. The proband’s genotype–phenotype correlation remained undefined in the absence of nuclear and mitochondrial pathogenic variants detected by deep sequencing of both genomes. However, live-cell mitochondrial metabolic investigations provided evidence of a deficient oxidative-phosphorylation pathway responsible for adenosine triphosphate (ATP) synthesis, leading to chronic energy crisis in the proband. In addition, our metabolic analysis revealed metabolic plasticity in favor of glycolysis for ATP synthesis. Our mitochondrial morphometric analysis by transmission electron microscopy confirmed the suspected mitochondrial etiology, as the proband’s mitochondria exhibited an immature morphology with poorly developed and rare cristae. Thus, our results support the concept that suboptimal levels of intrauterine oxygen and nutrients alter fetal mitochondrial metabolic reprogramming toward oxidative phosphorylation (OXPHOS) leading to a deficient postnatal mitochondrial energy metabolism. In conclusion, our collective studies shed light on the long-term postnatal mitochondrial pathophysiology caused by intrauterine growth restriction due to idiopathic placental insufficiency and its negative impact on the energy-demanding development of the fetal and postnatal brain. Full article
(This article belongs to the Special Issue Role of Mitochondria in Diseases)
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