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Mitochondrial Dysfunction in Disease

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A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cell Biology and Pathology".

Deadline for manuscript submissions: closed (31 January 2023) | Viewed by 37606

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Dr. Daniel L Galvan

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Guest Editor

Department of Hematopathology, MD Anderson Cancer Center, University of Texas, Houston, TX 77030, USA
Interests: kidney disease; mitochondrial dysfunction; diabetes; oxidative phosphorylation; mitochondrial dynamics; mitochondrial metabolism

Special Issue Information

Dear Colleagues,

Mitochondria are the powerhouse of the cell, producing chemical energy in the form of adenosine triphosphate (ATP) in a process termed oxidative phosphorylation. The proper function of mitochondria depends on their biogenesis, morphology, and bioenergetic capacity. In addition to their role in cellular respiration and energy production, they have critical functions in intracellular calcium homeostasis, cell growth and death, regulation of oxidative radicals, and production of biosynthetic molecules. The morphology, number, and function of mitochondria are a characteristic unique to each tissue to meet the energy needs of the organ. Indeed, mitochondria are not mere bystanders constrained by the cells they are contained within but highly dynamic and responsive organelles participating in intracellular signaling and highly regulated in both health and disease. As such, mitochondria have gained attention as a therapeutic target with great promise. Dysfunction of mitochondria is recognized in metabolic diseases, ischemic-tissue injury, cancer, neurodegenerative disease, and chronic kidney disease, just to name a few.

This Special Issue highlights the most recent research on how mitochondrial dysfunction contributes to disease. We cordially invite authors to contribute original research and review articles focusing on the role of mitochondria in disease and its progression. Novel mitochondrial-based therapies with translational potential, strategies targeting mitochondrial biogenesis, clearance, and signaling would be of interest. Genetic and mitochondrial replacement therapy approaches to mitochondrial dysfunction would be of interest with challenges unique to the mitochondria. We hope our Special Edition will reflect current and novel insights into the role of mitochondria in disease.

Dr. Daniel L Galvan
Guest Editor

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Keywords

oxidative phosphorylation
mitophagy
mitochondrial disease
diabetes
mitochondrial transport
electron transport chain
amino acid metabolism
lipid metabolism
cardiolipin
mitochondrial replacement

Published Papers (11 papers)

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Research

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19 pages, 2327 KiB

Open AccessArticle

Developing In Vitro Models to Define the Role of Direct Mitochondrial Toxicity in Frequently Reported Drug-Induced Rhabdomyolysis

by Faten F. Bin Dayel, Ana Alfirevic and Amy E. Chadwick

Biomedicines 2023, 11(5), 1485; https://doi.org/10.3390/biomedicines11051485 - 19 May 2023

Cited by 2 | Viewed by 1542

Abstract

The United States Food and Drug Administration Adverse Event Reporting System (FAERS) logged 27,140 rhabdomyolysis cases from 2004 to 31 March 2020. We used FAERS to identify 14 drugs frequently reported in 6583 rhabdomyolysis cases and to investigate whether mitochondrial toxicity is a common pathway of drug-induced rhabdomyolysis by these drugs. Preliminary screening for mitochondrial toxicity was performed using the acute metabolic switch assay, which is adapted here for use in murine L6 cells. Fenofibrate, risperidone, pregabalin, propofol, and simvastatin lactone drugs were identified as mitotoxic and underwent further investigation, using real-time respirometry (Seahorse Technology) to provide more detail on the mechanism of mitochondrial-induced toxicity. To confirm the human relevance of the findings, fenofibrate and risperidone were evaluated in primary human skeletal muscle-derived cells (HSKMDC), using the acute metabolic switch assay and real-time respirometry, which confirmed this designation, although the toxic effects on the mitochondria were more pronounced in HSKMDC. Overall, these studies demonstrate that the L6 model of acute modification may find utility as an initial, cost-effective screen for identifying potential myotoxicants with relevance to humans and, importantly, that drug-induced mitochondrial dysfunction may be a common mechanism shared by some drugs that induce myotoxicity. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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14 pages, 1411 KiB

Open AccessArticle

Targeting Mitochondrial IDH2 Enhances Antitumor Activity of Cisplatin in Lung Cancer via ROS-Mediated Mechanism

by He Li, Jiang-jiang Li, Wenhua Lu, Jing Yang, Yunfei Xia and Peng Huang

Biomedicines 2023, 11(2), 475; https://doi.org/10.3390/biomedicines11020475 - 7 Feb 2023

Cited by 2 | Viewed by 1851

Abstract

Mitochondrial isocitrate dehydrogenase 2 (IDH2) is an important metabolic enzyme in the tricarboxylic acid cycle (TCA) cycle. Our previous study showed that high expression of wild-type IDH2 promotes the proliferation of lung cancer cells. This study aims to test the potential of targeting IDH2 as a therapeutic strategy to inhibit lung cancer in vitro and in vivo. First, we analyzed the available data from the databases gene expression omnibus (GEO) database to evaluate the clinical relevance of IDH2 expression in affecting lung cancer patient survival. We then generated a stable IDH2-knockdown lung cancer cell line using a lentivirus-based method for in vitro and in vivo study. Cell growth, apoptosis, cell viability, and colony formation assays were conducted to test the sensitivity of lung cancer cells with different IDH2 expression status to cisplatin or radiation treatment in vitro. For mechanistic study, Cellular oxygen consumption and extracellular acidification rates were measured using a Seahorse metabolic analyzer, and reactive oxygen species (ROS) generation was analyzed using flow cytometry. An animal study using a xenograft tumor model was performed to further evaluate the in vivo therapeutic effect on tumor growth. We found that high IDH2 expression was associated with poor survival in lung cancer patients undergoing chemotherapy. Inhibition of IDH2 significantly enhanced the anticancer activity of cisplatin and also increased the effect of radiation against lung cancer cells. IDH2 was upregulated in cisplatin-resistant lung cancer cells, which could be sensitized by targeted inhibition of IDH2. Mechanistic study showed that abrogation of IDH2 caused only minimal changes in oxygen consumption rate (OCR) and extracellular acidification rate (ECAR) in lung cancer cells, but induced a significant increase in ROS, which rendered the cancer cells more sensitive to cisplatin. Pretreatment of lung cancer cells with the ROS scavenger N-acetyl-cysteine could partially rescue cells from the cytotoxic effect of cisplatin and IDH2 inhibition. Importantly, abrogation of IDH2 significantly increased the sensitivity of lung cancer cells to cisplatin in vivo. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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21 pages, 6535 KiB

Open AccessArticle

The Imbalance of Astrocytic Mitochondrial Dynamics Following Blast-Induced Traumatic Brain Injury

by Fernanda Guilhaume-Correa, Alicia M. Pickrell and Pamela J. VandeVord

Biomedicines 2023, 11(2), 329; https://doi.org/10.3390/biomedicines11020329 - 24 Jan 2023

Cited by 8 | Viewed by 1987

Abstract

Mild blast-induced traumatic brain injury (bTBI) is a modality of injury that has been of major concern considering a large number of military personnel exposed to explosive blast waves. bTBI results from the propagation of high-pressure static blast forces and their subsequent energy transmission within brain tissue. Exposure to this overpressure energy causes a diffuse injury that leads to acute cell damage and, if chronic, leads to detrimental long-term cognitive deficits. The literature presents a neuro-centric approach to the role of mitochondria dynamics dysfunction in bTBI, and changes in astrocyte-specific mitochondrial dynamics have not been characterized. The balance between fission and fusion events is known as mitochondrial dynamics. As a result of fission and fusion, the mitochondrial structure is constantly altering its shape to respond to physiological stimuli or stress, which in turn affects mitochondrial function. Astrocytic mitochondria are recognized to play an essential role in overall brain metabolism, synaptic transmission, and neuron protection. Mitochondria are vulnerable to injury insults, leading to the increase in mitochondrial fission, a mechanism controlled by the GTPase dynamin-related protein (Drp1) and the phosphorylation of Drp1 at serine 616 (p-Drp1^s616). This site is critical to mediate the Drp1 translocation to mitochondria to promote fission events and consequently leads to fragmentation. An increase in mitochondrial fragmentation could have negative consequences, such as promoting an excessive generation of reactive oxygen species or triggering cytochrome c release. The aim of the present study was to characterize the unique pattern of astrocytic mitochondrial dynamics by exploring the role of DRP1 with a combination of in vitro and in vivo bTBI models. Differential remodeling of the astrocytic mitochondrial network was observed, corresponding with increases in p-Drp1^S616 four hours and seven days post-injury. Further, results showed a time-dependent reactive astrocyte phenotype transition in the rat hippocampus. This discovery can lead to innovative therapeutics targets to help prevent the secondary injury cascade after blast injury that involves mitochondria dysfunction. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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19 pages, 4554 KiB

Open AccessEditor’s ChoiceArticle

A Mitochondrion-Targeting Protein (B2) Primes ROS/Nrf2-Mediated Stress Signals, Triggering Apoptosis and Necroptosis in Lung Cancer

by Hsuan-Wen Chiu, Shao-Wen Hung, Ching-Feng Chiu and Jiann-Ruey Hong

Biomedicines 2023, 11(1), 186; https://doi.org/10.3390/biomedicines11010186 - 11 Jan 2023

Cited by 1 | Viewed by 1755

Abstract

The betanodavirus B2 protein targets mitochondria and triggers mitochondrion-mediated cell death signaling in lung cancer cells; however, its molecular mechanism remains unknown. In this study, we observed that B2 triggers hydrogen peroxide/Nrf2-involved stress signals in the dynamic regulation of non-small lung cancer cell (NSCLC)-programmed cell death. Here, the B2 protein works as a necrotic inducer that triggers lung cancer death via p53 upregulation and RIP3 expression, suggesting a new perspective on lung cancer therapy. We employed the B2 protein to target A549 lung cancer cells and solid tumors in NOD/SCID mice. Tumors were collected and processed for the hematoxylin and eosin staining of tissue and cell sections, and their sera were used for blood biochemistry analysis. We observed that B2 killed an A549 cell-induced solid tumor in NOD/SCID mice; however, the mutant ΔB2 did not. In NOD/SCID mice, B2 (but not ΔB2) induced both p53/Bax-mediated apoptosis and RIPK3-mediated necroptosis. Finally, immunochemistry analysis showed hydrogen peroxide /p38/Nrf2 stress strongly inhibited the production of tumor markers CD133, Thy1, and napsin, which correlate with migration and invasion in cancer cells. This B2-triggered, ROS/Nrf2-mediated stress signal triggered multiple signals via pathways that killed A549 lung cancer tumor cells in vivo. Our results provide novel insight into lung cancer management and drug therapy. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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12 pages, 2067 KiB

Open AccessArticle

The PINK1 Activator Niclosamide Mitigates Mitochondrial Dysfunction and Thermal Hypersensitivity in a Paclitaxel-Induced Drosophila Model of Peripheral Neuropathy

by Hye-Ji Jang, Young-Yeon Kim, Kang-Min Lee, Jung-Eun Shin and Jeanho Yun

Biomedicines 2022, 10(4), 863; https://doi.org/10.3390/biomedicines10040863 - 7 Apr 2022

Cited by 4 | Viewed by 2223

Abstract

Paclitaxel is a widely used anticancer drug that induces dose-limiting peripheral neuropathy. Mitochondrial dysfunction has been implicated in paclitaxel-induced neuronal damage and in the onset of peripheral neuropathy. We have previously shown that the expression of PINK1, a key mediator of mitochondrial quality control, ameliorated the paclitaxel-induced thermal hyperalgesia phenotype and restored mitochondrial homeostasis in Drosophila larvae. In this study, we show that the small-molecule PINK1 activator niclosamide exhibits therapeutic potential for paclitaxel-induced peripheral neuropathy. Specifically, niclosamide cotreatment significantly ameliorated the paclitaxel-induced thermal hyperalgesia phenotype in Drosophila larvae in a PINK1-dependent manner. Paclitaxel-induced alteration of the dendrite structure of class IV dendritic arborization (C4da) neurons was not reduced upon niclosamide treatment. In contrast, paclitaxel treatment-induced increases in both mitochondrial ROS and aberrant mitophagy levels in C4da neurons were significantly suppressed by niclosamide. In addition, niclosamide suppressed paclitaxel-induced mitochondrial dysfunction in human SH-SY5Y cells in a PINK1-dependent manner. These results suggest that niclosamide alleviates thermal hyperalgesia by attenuating paclitaxel-induced mitochondrial dysfunction. Taken together, our results suggest that niclosamide is a potential candidate for the treatment of paclitaxel-induced peripheral neuropathy with low toxicity in neurons and that targeting mitochondrial dysfunction is a promising strategy for the treatment of chemotherapy-induced peripheral neuropathy. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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22 pages, 3586 KiB

Open AccessArticle

Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat

by Aleksandra Marković, Kateřina Tauchmannová, Miroslava Šimáková, Petr Mlejnek, Vilma Kaplanová, Petr Pecina, Alena Pecinová, František Papoušek, František Liška, Jan Šilhavý, Jana Mikešová, Jan Neckář, Josef Houštěk, Michal Pravenec and Tomáš Mráček

Biomedicines 2022, 10(2), 276; https://doi.org/10.3390/biomedicines10020276 - 26 Jan 2022

Cited by 2 | Viewed by 3204

Abstract

Mutations of the TMEM70 gene disrupt the biogenesis of the ATP synthase and represent the most frequent cause of autosomal recessive encephalo-cardio-myopathy with neonatal onset. Patient tissues show isolated defects in the ATP synthase, leading to the impaired mitochondrial synthesis of ATP and insufficient energy provision. In the current study, we tested the efficiency of gene complementation by using a transgenic rescue approach in spontaneously hypertensive rats with the targeted Tmem70 gene (SHR-Tmem70^ko^/ko), which leads to embryonic lethality. We generated SHR-Tmem70^ko^/ko knockout rats expressing the Tmem70 wild-type transgene (SHR-Tmem70^ko^/ko,tg/tg) under the control of the EF-1α universal promoter. Transgenic rescue resulted in viable animals that showed the variable expression of the Tmem70 transgene across the range of tissues and only minor differences in terms of the growth parameters. The TMEM70 protein was restored to 16–49% of the controls in the liver and heart, which was sufficient for the full biochemical complementation of ATP synthase biogenesis as well as for mitochondrial energetic function in the liver. In the heart, we observed partial biochemical complementation, especially in SHR-Tmem70^ko^/ko,tg/0 hemizygotes. As a result, this led to a minor impairment in left ventricle function. Overall, the transgenic rescue of Tmem70 in SHR-Tmem70^ko^/ko knockout rats resulted in the efficient complementation of ATP synthase deficiency and thus in the successful genetic treatment of an otherwise fatal mitochondrial disorder. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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17 pages, 3223 KiB

Open AccessArticle

Mitochondrial Respiration of Platelets: Comparison of Isolation Methods

by Andrea Vernerova, Luiz Felipe Garcia-Souza, Ondrej Soucek, Milan Kostal, Vit Rehacek, Lenka Kujovska Krcmova, Erich Gnaiger and Ondrej Sobotka

Biomedicines 2021, 9(12), 1859; https://doi.org/10.3390/biomedicines9121859 - 8 Dec 2021

Cited by 1 | Viewed by 2903

Abstract

Multiple non-aggregatory functions of human platelets (PLT) are widely acknowledged, yet their functional examination is limited mainly due to a lack of standardized isolation and analytic methods. Platelet apheresis (PA) is an established clinical method for PLT isolation aiming at the treatment of bleeding diathesis in severe thrombocytopenia. On the other hand, density gradient centrifugation (DC) is an isolation method applied in research for the analysis of the mitochondrial metabolic profile of oxidative phosphorylation (OXPHOS) in PLT obtained from small samples of human blood. We studied PLT obtained from 29 healthy donors by high-resolution respirometry for comparison of PA and DC isolates. ROUTINE respiration and electron transfer capacity of living PLT isolated by PA were significantly higher than in the DC group, whereas plasma membrane permeabilization resulted in a 57% decrease of succinate oxidation in PA compared to DC. These differences were eliminated after washing the PA platelets with phosphate buffer containing 10 mmol·L⁻¹ ethylene glycol-bis (2-aminoethyl ether)-N,N,N′,N′-tetra-acetic acid, suggesting that several components, particularly Ca²⁺ and fuel substrates, were carried over into the respiratory assay from the serum in PA. A simple washing step was sufficient to enable functional mitochondrial analysis in subsamples obtained from PA. The combination of the standard clinical PA isolation procedure with PLT quality control and routine mitochondrial OXPHOS diagnostics meets an acute clinical demand in biomedical research of patients suffering from thrombocytopenia and metabolic diseases. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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27 pages, 10852 KiB

Open AccessEditor’s ChoiceArticle

β-RA Targets Mitochondrial Metabolism and Adipogenesis, Leading to Therapeutic Benefits against CoQ Deficiency and Age-Related Overweight

by Agustín Hidalgo-Gutiérrez, Eliana Barriocanal-Casado, María Elena Díaz-Casado, Pilar González-García, Riccardo Zenezini Chiozzi, Darío Acuña-Castroviejo and Luis Carlos López

Biomedicines 2021, 9(10), 1457; https://doi.org/10.3390/biomedicines9101457 - 13 Oct 2021

Cited by 8 | Viewed by 2879

Abstract

Primary mitochondrial diseases are caused by mutations in mitochondrial or nuclear genes, leading to the abnormal function of specific mitochondrial pathways. Mitochondrial dysfunction is also a secondary event in more common pathophysiological conditions, such as obesity and metabolic syndrome. In both cases, the improvement and management of mitochondrial homeostasis remain challenging. Here, we show that beta-resorcylic acid (β-RA), which is a natural phenolic compound, competed in vivo with 4-hydroxybenzoic acid, which is the natural precursor of coenzyme Q biosynthesis. This led to a decrease in demethoxyubiquinone, which is an intermediate metabolite of CoQ biosynthesis that is abnormally accumulated in Coq9^R239X mice. As a consequence, β-RA rescued the phenotype of Coq9^R239X mice, which is a model of primary mitochondrial encephalopathy. Moreover, we observed that long-term treatment with β-RA also reduced the size and content of the white adipose tissue (WAT) that is normally accumulated during aging in wild-type mice, leading to the prevention of hepatic steatosis and an increase in survival at the elderly stage of life. The reduction in WAT content was due to a decrease in adipogenesis, an adaptation of the mitochondrial proteome in the kidneys, and stimulation of glycolysis and acetyl-CoA metabolism. Therefore, our results demonstrate that β-RA acted through different cellular mechanisms, with effects on mitochondrial metabolism; as such, it may be used for the treatment of primary coenzyme Q deficiency, overweight, and hepatic steatosis. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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15 pages, 5501 KiB

Open AccessArticle

Epidermal Fatty Acid-Binding Protein 5 (FABP5) Involvement in Alpha-Synuclein-Induced Mitochondrial Injury under Oxidative Stress

by Yifei Wang, Yasuharu Shinoda, An Cheng, Ichiro Kawahata and Kohji Fukunaga

Biomedicines 2021, 9(2), 110; https://doi.org/10.3390/biomedicines9020110 - 22 Jan 2021

Cited by 15 | Viewed by 3085

Abstract

The accumulation of α-synuclein (αSyn) has been implicated as a causal factor in the pathogenesis of Parkinson’s disease (PD). There is growing evidence that supports mitochondrial dysfunction as a potential primary cause of dopaminergic neuronal death in PD. Here, we focused on reciprocal interactions between αSyn aggregation and mitochondrial injury induced by oxidative stress. We further investigated whether epidermal fatty acid-binding protein 5 (FABP5) is related to αSyn oligomerization/aggregation and subsequent disturbances in mitochondrial function in neuronal cells. In the presence of rotenone, a mitochondrial respiratory chain complex I inhibitor, co-overexpression of FABP5 with αSyn significantly decreased the viability of Neuro-2A cells compared to that of αSyn alone. Under these conditions, FABP5 co-localized with αSyn in the mitochondria, thereby reducing mitochondrial membrane potential. Furthermore, we confirmed that pharmacological inhibition of FABP5 by its ligand prevented αSyn accumulation in mitochondria, which led to cell death rescue. These results suggested that FABP5 is crucial for mitochondrial dysfunction related to αSyn oligomerization/aggregation in the mitochondria induced by oxidative stress in neurons. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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Review

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33 pages, 2039 KiB

Open AccessReview

Understanding Long COVID; Mitochondrial Health and Adaptation—Old Pathways, New Problems

by Alistair V. W. Nunn, Geoffrey W. Guy, Wolfgang Brysch and Jimmy D. Bell

Biomedicines 2022, 10(12), 3113; https://doi.org/10.3390/biomedicines10123113 - 2 Dec 2022

Cited by 25 | Viewed by 10780

Abstract

Many people infected with the SARS-CoV-2 suffer long-term symptoms, such as “brain fog”, fatigue and clotting problems. Explanations for “long COVID” include immune imbalance, incomplete viral clearance and potentially, mitochondrial dysfunction. As conditions with sub-optimal mitochondrial function are associated with initial severity of the disease, their prior health could be key in resistance to long COVID and recovery. The SARs virus redirects host metabolism towards replication; in response, the host can metabolically react to control the virus. Resolution is normally achieved after viral clearance as the initial stress activates a hormetic negative feedback mechanism. It is therefore possible that, in some individuals with prior sub-optimal mitochondrial function, the virus can “tip” the host into a chronic inflammatory cycle. This might explain the main symptoms, including platelet dysfunction. Long COVID could thus be described as a virally induced chronic and self-perpetuating metabolically imbalanced non-resolving state characterised by mitochondrial dysfunction, where reactive oxygen species continually drive inflammation and a shift towards glycolysis. This would suggest that a sufferer’s metabolism needs to be “tipped” back using a stimulus, such as physical activity, calorie restriction, or chemical compounds that mimic these by enhancing mitochondrial function, perhaps in combination with inhibitors that quell the inflammatory response. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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11 pages, 743 KiB

Open AccessReview

Human Mitochondrial DNA: Particularities and Diseases

by Mouna Habbane, Julio Montoya, Taha Rhouda, Yousra Sbaoui, Driss Radallah and Sonia Emperador

Biomedicines 2021, 9(10), 1364; https://doi.org/10.3390/biomedicines9101364 - 1 Oct 2021

Cited by 13 | Viewed by 3916

Abstract

Mitochondria are the cell’s power site, transforming energy into a form that the cell can employ for necessary metabolic reactions. These organelles present their own DNA. Although it codes for a small number of genes, mutations in mtDNA are common. Molecular genetics diagnosis allows the analysis of DNA in several areas such as infectiology, oncology, human genetics and personalized medicine. Knowing that the mitochondrial DNA is subject to several mutations which have a direct impact on the metabolism of the mitochondrion leading to many diseases, it is therefore necessary to detect these mutations in the patients involved. To date numerous mitochondrial mutations have been described in humans, permitting confirmation of clinical diagnosis, in addition to a better management of the patients. Therefore, different techniques are employed to study the presence or absence of mitochondrial mutations. However, new mutations are discovered, and to determine if they are the cause of disease, different functional mitochondrial studies are undertaken using transmitochondrial cybrid cells that are constructed by fusion of platelets of the patient that presents the mutation, with rho osteosarcoma cell line. Moreover, the contribution of next generation sequencing allows sequencing of the entire human genome within a single day and should be considered in the diagnosis of mitochondrial mutations. Full article

(This article belongs to the Special Issue Mitochondrial Dysfunction in Disease)

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