keyword
https://read.qxmd.com/read/38521420/a-stagewise-response-to-mitochondrial-dysfunction-in-mitochondrial-dna-maintenance-disorders
#1
JOURNAL ARTICLE
Amy E Vincent, Chun Chen, Tiago Bernardino Gomes, Valeria Di Leo, Tuomas Laalo, Kamil Pabis, Rodrick Capaldi, Michael F Marusich, David McDonald, Andrew Filby, Andrew Fuller, Diana Lehmann Urban, Stephan Zierz, Marcus Deschauer, Doug Turnbull, Amy K Reeve, Conor Lawless
Mitochondrial DNA (mtDNA) deletions which clonally expand in skeletal muscle of patients with mtDNA maintenance disorders, impair mitochondrial oxidative phosphorylation dysfunction. Previously we have shown that these mtDNA deletions arise and accumulate in perinuclear mitochondria causing localised mitochondrial dysfunction before spreading through the muscle fibre. We believe that mito-nuclear signalling is a key contributor in the accumulation and spread of mtDNA deletions, and that knowledge of how muscle fibres respond to mitochondrial dysfunction is key to our understanding of disease mechanisms...
March 21, 2024: Biochimica et Biophysica Acta. Molecular Basis of Disease
https://read.qxmd.com/read/38496679/a-human-brain-map-of-mitochondrial-respiratory-capacity-and-diversity
#2
Eugene V Mosharov, Ayelet M Rosenberg, Anna S Monzel, Corey A Osto, Linsey Stiles, Gorazd B Rosoklija, Andrew J Dwork, Snehal Bindra, Ya Zhang, Masashi Fujita, Madeline B Mariani, Mihran Bakalian, David Sulzer, Philip L De Jager, Vilas Menon, Orian S Shirihai, J John Mann, Mark Underwood, Maura Boldrini, Michel Thiebaut de Schotten, Martin Picard
Mitochondrial oxidative phosphorylation (OxPhos) powers brain activity 1,2 , and mitochondrial defects are linked to neurodegenerative and neuropsychiatric disorders 3,4 , underscoring the need to define the brain's molecular energetic landscape 5-10 . To bridge the cognitive neuroscience and cell biology scale gap, we developed a physical voxelization approach to partition a frozen human coronal hemisphere section into 703 voxels comparable to neuroimaging resolution (3×3×3 mm). In each cortical and subcortical brain voxel, we profiled mitochondrial phenotypes including OxPhos enzyme activities, mitochondrial DNA and volume density, and mitochondria-specific respiratory capacity...
March 7, 2024: bioRxiv
https://read.qxmd.com/read/38495499/linc00839-in-human-disorders-insights-into-its-regulatory-roles-and-clinical-impact-with-a-special-focus-on-cancer
#3
REVIEW
Yingqiu Hu, Yushan Hu, Xuan Lu, Hongliang Luo, Ziwen Chen
LINC00839 has captured significant attention within a spectrum of human disorders, including acute lung injury, osteoarthritis, and childhood obesity. Notably, aberrant expression patterns of LINC00839 have been observed across diverse cancer tissues and cell lines. LINC00839 emerges as an oncogenic factor in tumorigenesis and exerts a positive influence on tumor-associated behaviors. Its therapeutic potential for various cancers is underscored by its modulatory impact on pivotal signaling pathways, such as PI3K/AKT, OXPHOS, and Wnt/β-catenin...
2024: Journal of Cancer
https://read.qxmd.com/read/38473844/nicotinamide-mononucleotide-nmn-works-in-type-2-diabetes-through-unexpected-effects-in-adipose-tissue-not-by-mitochondrial-biogenesis
#4
JOURNAL ARTICLE
Roua Gabriela Popescu, Anca Dinischiotu, Teodoru Soare, Ene Vlase, George Cătălin Marinescu
Nicotinamide mononucleotide (NMN) has emerged as a promising therapeutic intervention for age-related disorders, including type 2 diabetes. In this study, we confirmed the previously observed effects of NMN treatment on glucose uptake and investigated its underlying mechanisms in various tissues and cell lines. Through the most comprehensive proteomic analysis to date, we discovered a series of novel organ-specific effects responsible for glucose uptake as measured by the IPGTT: adipose tissue growing (suggested by increased protein synthesis and degradation and mTOR proliferation signaling upregulation)...
February 23, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38438847/mitochondrial-metabolism-in-neural-stem-cells-and-implications-for-neurodevelopmental-and-neurodegenerative-diseases
#5
REVIEW
C Garone, F De Giorgio, S Carli
Mitochondria are cytoplasmic organelles having a fundamental role in the regulation of neural stem cell (NSC) fate during neural development and maintenance.During embryonic and adult neurogenesis, NSCs undergo a metabolic switch from glycolytic to oxidative phosphorylation with a rise in mitochondrial DNA (mtDNA) content, changes in mitochondria shape and size, and a physiological augmentation of mitochondrial reactive oxygen species which together drive NSCs to proliferate and differentiate. Genetic and epigenetic modifications of proteins involved in cellular differentiation (Mechanistic Target of Rapamycin), proliferation (Wingless-type), and hypoxia (Mitogen-activated protein kinase)-and all connected by the common key regulatory factor Hypoxia Inducible Factor-1A-are deemed to be responsible for the metabolic shift and, consequently, NSC fate in physiological and pathological conditions...
March 4, 2024: Journal of Translational Medicine
https://read.qxmd.com/read/38408618/miro1-improves-the-exogenous-engraftment-efficiency-and-therapeutic-potential-of-mitochondria-transfer-using-wharton-s-jelly-mesenchymal-stem-cells
#6
JOURNAL ARTICLE
Yu-Han Lin, Kai-Lieh Lin, Xiao-Wen Wang, Jong-Jer Lee, Feng-Sheng Wang, Pei-Wen Wang, Min-Yu Lan, Chia-Wei Liou, Tsu-Kung Lin
Mitochondria are important for maintaining cellular energy metabolism and regulating cellular senescence. Mitochondrial DNA (mtDNA) encodes subunits of the OXPHOS complexes which are essential for cellular respiration and energy production. Meanwhile, mtDNA variants have been associated with the pathogenesis of neurodegenerative diseases, including MELAS, for which no effective treatment has been developed. To alleviate the pathological conditions involved in mitochondrial disorders, mitochondria transfer therapy has shown promise...
February 24, 2024: Mitochondrion
https://read.qxmd.com/read/38370357/mitochondrial-dysfunction-and-therapeutic-perspectives-in-osteoporosis
#7
REVIEW
Jialing Liu, Zhonghua Gao, Xiangjie Liu
Osteoporosis (OP) is a systemic skeletal disorder characterized by reduced bone mass and structural deterioration of bone tissue, resulting in heightened vulnerability to fractures due to increased bone fragility. This condition primarily arises from an imbalance between the processes of bone resorption and formation. Mitochondrial dysfunction has been reported to potentially constitute one of the most crucial mechanisms influencing the pathogenesis of osteoporosis. In essence, mitochondria play a crucial role in maintaining the delicate equilibrium between bone formation and resorption, thereby ensuring optimal skeletal health...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38354502/chemical-proteomics-unveils-that-seventy-flavors-pearl-pill-ameliorates-ischemic-stroke-by-regulating-oxidative-phosphorylation
#8
JOURNAL ARTICLE
Ruyun Ma, Kelsang Norbo, Yanning Zhu, Chunyan Zhu, Feng Zhou, Lobsang Dhondub, Kelsang Gyaltsen, Caisheng Wu, Jianye Dai
Ischemic stroke has high mortality and morbidity rates and is the second leading cause of death in the world, but there is no definitive medicine. Seventy Flavors Pearl Pill (SFPP) is a classic formula in Tibetan Medicine. Clinical practice has shown the attenuation effect of SFPP on blood pressure disorders, strokes and their sequelae and other neurological symptoms, but its mechanism remains to be elucidated. In this study, we established three animal models in vivo and three cell models to evaluate the anti-hypoxia, anti-ischemia, and reperfusion injury prevention effects of SFPP...
February 9, 2024: Bioorganic Chemistry
https://read.qxmd.com/read/38314968/genetically-inspired-organoids-prevent-joint-degeneration-and-alleviate-chondrocyte-senescence-via-col11a1-hif1%C3%AE-mediated-glycolysis-oxphos-metabolism-shift
#9
JOURNAL ARTICLE
Ye Sun, Yongqing You, Qiang Wu, Rui Hu, Kerong Dai
INTRODUCTION: Developmental dysplasia of hip (DDH) is a hip joint disorder leading to subsequent osteoarthritis. Previous studies suggested collagen XI alpha 1 (COL11A1) as a potential gene in hip dysplasia and chondrocyte degeneration. However, no genetic association has reported COL11A1-related cellular therapy as treatment of DDH and joint degeneration. METHODS AND RESULTS: We report identified genetic association between COL11A1 locus and DDH with genome-wide association study (GWAS)...
February 2024: Clinical and Translational Medicine
https://read.qxmd.com/read/38280294/the-striking-differences-in-the-bioenergetics-of-brain-and-liver-mitochondria-are-enhanced-in-mitochondrial-disease
#10
JOURNAL ARTICLE
Valeria Balmaceda, Timea Komlódi, Marten Szibor, Erich Gnaiger, Anthony L Moore, Erika Fernandez-Vizarra, Carlo Viscomi
Mitochondrial disorders are hallmarked by the dysfunction of oxidative phosphorylation (OXPHOS) yet are highly heterogeneous at the clinical and genetic levels. Striking tissue-specific pathological manifestations are a poorly understood feature of these conditions, even if the disease-causing genes are ubiquitously expressed. To investigate the functional basis of this phenomenon, we analyzed several OXPHOS-related bioenergetic parameters, including oxygen consumption rates, electron transfer system (ETS)-related coenzyme Q (mtCoQ) redox state and production of reactive oxygen species (ROS) in mouse brain and liver mitochondria fueled by different substrates...
January 26, 2024: Biochimica et Biophysica Acta. Molecular Basis of Disease
https://read.qxmd.com/read/38280232/opa1-mutation-affects-autophagy-and-triggers-senescence-in-autosomal-dominant-optic-atrophy-plus-fibroblasts
#11
JOURNAL ARTICLE
Paola Zanfardino, Alessandro Amati, Stefano Doccini, Sharon N Cox, Apollonia Tullo, Giovanna Longo, Annamaria D'Erchia, Ernesto Picardi, Claudia Nesti, Filippo M Santorelli, Vittoria Petruzzella
In several cases of mitochondrial diseases, the underlying genetic and bioenergetic causes of reduced oxidative phosphorylation (OxPhos) in mitochondrial dysfunction are well understood. However, there is still limited knowledge about the specific cellular outcomes and factors involved for each gene and mutation, which contributes to the lack of effective treatments for these disorders. This study focused on fibroblasts from a patient with Autosomal Dominant Optic Atrophy (ADOA) plus syndrome harboring a mutation in the Optic Atrophy 1 (OPA1) gene...
January 27, 2024: Human Molecular Genetics
https://read.qxmd.com/read/38248422/recent-advances-in-electrochemical-detection-of-cell-energy-metabolism
#12
REVIEW
Kyeong-Mo Koo, Chang-Dae Kim, Tae-Hyung Kim
Cell energy metabolism is a complex and multifaceted process by which some of the most important nutrients, particularly glucose and other sugars, are transformed into energy. This complexity is a result of dynamic interactions between multiple components, including ions, metabolic intermediates, and products that arise from biochemical reactions, such as glycolysis and mitochondrial oxidative phosphorylation (OXPHOS), the two main metabolic pathways that provide adenosine triphosphate (ATP), the main source of chemical energy driving various physiological activities...
January 15, 2024: Biosensors
https://read.qxmd.com/read/38243972/uniparental-disomy-as-a-mechanism-for-combined-oxidative-phosphorylation-deficiency-associated-with-mrps34-gene
#13
JOURNAL ARTICLE
Marta P Soares, André M Travessa, Sónia Custódio, Carla Pereira, Patrícia Pinto, Ana Berta Sousa
INTRODUCTION: Mitochondrial oxidative phosphorylation (OXPHOS) is a cellular process that generates most of the cellular energy required by the body. Disorders affecting OXPHOS are multisystem diseases caused by pathogenic variants in more than 50 genes. In 2017, biallelic variants in the MRPS34 gene were shown to cause combined oxidative phosphorylation deficiency type 32 (COPD32) (OMIM#617664); however, only 7 patients have been reported in the literature up to this moment. COPD32 is characterized mainly by a severe Leigh-like syndrome...
January 12, 2024: Endocrine, Metabolic & Immune Disorders Drug Targets
https://read.qxmd.com/read/38215960/echinacoside-stimulates-myogenesis-and-atp-dependent-thermogenesis-in-the-skeletal-muscle-via-the-activation-of-d1-like-dopaminergic-receptors
#14
JOURNAL ARTICLE
Kiros Haddish, Jong Won Yun
Recent studies have shown that some natural compounds from plants prevent obesity and related disorders, including the loss of skeletal muscle mass and strength. In this study, we investigated the effect of echinacoside (ECH), a caffeic acid glycoside from the phenylpropanoid class, on myogenesis and ATP-dependent thermogenesis in the skeletal muscle and its interaction with the dopaminergic receptors 1 and 5 (DRD1 and DRD5). We applied RT-PCR, immunoblot analysis, a staining method, and an assay kit to determine the effects of ECH on diverse target genes and proteins involved in skeletal muscle myogenesis and ATP-consuming futile processes...
January 10, 2024: Archives of Biochemistry and Biophysics
https://read.qxmd.com/read/38212783/interleukin-6-elicited-chronic-neuroinflammation-may-decrease-survival-but-is-not-sufficient-to-drive-disease-progression-in-a-mouse-model-of-leigh-syndrome
#15
JOURNAL ARTICLE
Kevin Aguilar, Carla Canal, Gemma Comes, Sandra Díaz-Clavero, Maria Angeles Llanos, Albert Quintana, Elisenda Sanz, Juan Hidalgo
BACKGROUND: Mitochondrial diseases (MDs) are genetic disorders characterized by dysfunctions in mitochondria. Clinical data suggest that additional factors, beyond genetics, contribute to the onset and progression of this group of diseases, but these influencing factors remain largely unknown. Mounting evidence indicates that immune dysregulation or distress could play a role. Clinical observations have described the co-incidence of infection and the onset of the disease as well as the worsening of symptoms following infection...
January 11, 2024: Journal of Inflammation
https://read.qxmd.com/read/38196050/glycolytic-enzymes-in-non-glycolytic-web-functional-analysis-of-the-key-players
#16
REVIEW
Avirup Malla, Suvroma Gupta, Runa Sur
To survive in the tumour microenvironment, cancer cells undergo rapid metabolic reprograming and adaptability. One of the key characteristics of cancer is increased glycolytic selectivity and decreased oxidative phosphorylation (OXPHOS). Apart from ATP synthesis, glycolysis is also responsible for NADH regeneration and macromolecular biosynthesis, such as amino acid biosynthesis and nucleotide biosynthesis. This allows cancer cells to survive and proliferate even in low-nutrient and oxygen conditions, making glycolytic enzymes a promising target for various anti-cancer agents...
January 9, 2024: Cell Biochemistry and Biophysics
https://read.qxmd.com/read/38167815/h-slip-correlated-to-rotor-free-wheeling-as-cause-of-f-1-f-o-atpase-dysfunction-in-primary-mitochondrial-disorders
#17
JOURNAL ARTICLE
Salvatore Nesci, Giovanni Romeo
Inborn errors of metabolism are related to mitochondrial disorders caused by dysfunction of the oxidative phosphorylation (OXPHOS) system. Congenital hypermetabolism in the infant is a rare disease belonging to Luft syndrome, nonthyroidal hypermetabolism, arising from a singular example of a defect in OXPHOS. The mitochondria lose coupling of mitochondrial substrates oxidation from the ADP phosphorylation. Since Luft syndrome is due to uncoupled cell respiration responsible for deficient in ATP production that originates in the respiratory complexes, a de novo heterozygous variant in the catalytic subunit of mitochondrial F1 FO -ATPase arises as the main cause of an autosomal dominant syndrome of hypermetabolism associated with dysfunction in ATP production, which does not involve the respiratory complexes...
January 3, 2024: Medicinal Research Reviews
https://read.qxmd.com/read/38142971/mutations-in-dnajc19-cause-altered-mitochondrial-structure-and-increased-mitochondrial-respiration-in-human-ipsc-derived-cardiomyocytes
#18
JOURNAL ARTICLE
Anna Janz, Katharina Walz, Alexandra Cirnu, Jessica Surjanto, Daniela Urlaub, Miriam Leskien, Michael Kohlhaas, Alexander Nickel, Theresa Brand, Naoko Nose, Philipp Wörsdörfer, Nicole Wagner, Takahiro Higuchi, Christoph Maack, Jan Dudek, Kristina Lorenz, Eva Klopocki, Süleyman Ergün, Henry J Duff, Brenda Gerull
BACKGROUND: Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from truncating mutations in DNAJC19, which encodes an inner mitochondrial membrane protein. Clinical features include an early onset, often life-threatening, cardiomyopathy associated with other metabolic features. Here, we aim to understand the metabolic and pathophysiological mechanisms of mutant DNAJC19 for the development of cardiomyopathy. METHODS: We generated induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) of two affected siblings with DCMA and a gene-edited truncation variant (tv) of DNAJC19which all lack the conserved DnaJ interaction domain...
December 22, 2023: Molecular Metabolism
https://read.qxmd.com/read/38111113/challenges-in-genetic-diagnosis-of-mitochondrial-diseases-what-can-functional-genomics-studies-do
#19
JOURNAL ARTICLE
Marta Simões, Maria João Santos, Sara Martins, Maria do Carmo Macário, João Durães, Luísa Diogo, João Paulo Oliveira, José Carlos Ferreira, Manuela Grazina
INTRODUCTION: Mitochondrial oxidative phosphorylation (OXPHOS) diseases are challenging both from clinical and therapeutic perspectives. The advent of next-generation sequencing (NGS) boosted the discovery of new genetic defects affecting OXPHOS, with pathogenic variants identified in >350 genes to date [1]. However, in many patients, novel variants of unknown clinical significance are found. Subsequent functional studies may clarify its pathogenic consequences and modify the variant's classification, establishing a genetic diagnosis [2, 3]...
December 18, 2023: Endocrine, Metabolic & Immune Disorders Drug Targets
https://read.qxmd.com/read/38069070/red-flags-in-primary-mitochondrial-diseases-what-should-we-recognize
#20
REVIEW
Federica Conti, Serena Di Martino, Filippo Drago, Claudio Bucolo, Vincenzo Micale, Vincenzo Montano, Gabriele Siciliano, Michelangelo Mancuso, Piervito Lopriore
Primary mitochondrial diseases (PMDs) are complex group of metabolic disorders caused by genetically determined impairment of the mitochondrial oxidative phosphorylation (OXPHOS). The unique features of mitochondrial genetics and the pivotal role of mitochondria in cell biology explain the phenotypical heterogeneity of primary mitochondrial diseases and the resulting diagnostic challenges that follow. Some peculiar features ("red flags") may indicate a primary mitochondrial disease, helping the physician to orient in this diagnostic maze...
November 25, 2023: International Journal of Molecular Sciences
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