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Mitochondrial disease complex I

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https://www.readbyqxmd.com/read/29339557/chronic-dietary-creatine-enhances-hippocampal-dependent-spatial-memory-bioenergetics-and-levels-of-plasticity-related-proteins-associated-with-nf-%C3%AE%C2%BAb
#1
Wanda M Snow, Chris Cadonic, Claudia Cortes-Perez, Subir K Roy Chowdhury, Jelena Djordjevic, Ella Thomson, Michael J Bernstein, Miyoung Suh, Paul Fernyhough, Benedict C Albensi
The brain has a high demand for energy, of which creatine (Cr) is an important regulator. Studies document neurocognitive benefits of oral Cr in mammals, yet little is known regarding their physiological basis. This study investigated the effects of Cr supplementation (3%, w/w) on hippocampal function in male C57BL/6 mice, including spatial learning and memory in the Morris water maze and oxygen consumption rates from isolated mitochondria in real time. Levels of transcription factors and related proteins (CREB, Egr1, and IκB to indicate NF-κB activity), proteins implicated in cognition (CaMKII, PSD-95, and Egr2), and mitochondrial proteins (electron transport chain Complex I, mitochondrial fission protein Drp1) were probed with Western blotting...
February 2018: Learning & Memory
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#2
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29317722/loss-of-the-mitochondrial-fatty-acid-%C3%AE-oxidation-protein-medium-chain-acyl-coenzyme-a-dehydrogenase-disrupts-oxidative-phosphorylation-protein-complex-stability-and-function
#3
Sze Chern Lim, Makiko Tajika, Masaru Shimura, Kirstyn T Carey, David A Stroud, Kei Murayama, Akira Ohtake, Matthew McKenzie
Medium-chain acyl-Coenzyme A dehydrogenase (MCAD) is involved in the initial step of mitochondrial fatty acid β-oxidation (FAO). Loss of function results in MCAD deficiency, a disorder that usually presents in childhood with hypoketotic hypoglycemia, vomiting and lethargy. While the disruption of mitochondrial fatty acid metabolism is the primary metabolic defect, secondary defects in mitochondrial oxidative phosphorylation (OXPHOS) may also contribute to disease pathogenesis. Therefore, we examined OXPHOS activity and stability in MCAD-deficient patient fibroblasts that have no detectable MCAD protein...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29314548/clinical-biochemical-and-genetic-features-associated-with-vars2-related-mitochondrial-disease
#4
Francesco Bruni, Ivano Di Meo, Emanuele Bellacchio, Bryn D Webb, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Langping He, Ewa Skorupa, Isabella Moroni, Anna Ardissone, Anna Walczak, Henna Tyynismaa, Pirjo Isohanni, Hanna Mandel, Holger Prokisch, Tobias Haack, Penelope E Bonnen, Bertini Enrico, Ewa Pronicka, Daniele Ghezzi, Robert W Taylor, Daria Diodato
In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2, encoding the mitochondrial valyl tRNA-synthetase, were first reported in a patient with psychomotor delay and epilepsia partialis continua associated with an oxidative phosphorylation (OXPHOS) complex I defect, before being described in a patient with a neonatal form of encephalocardiomyopathy...
January 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29290444/milk-from-cows-fed-a-diet-with-a-high-forage-concentrate-ratio-improves-inflammatory-state-oxidative-stress-and-mitochondrial-function-in-rats
#5
Gina Cavaliere, Giovanna Trinchese, Nadia Musco, Federico Infascelli, Chiara De Filippo, Vincenzo Mastellone, Valeria Maria Morittu, Pietro Lombardi, Raffaella Tudisco, Micaela Grossi, Vincenzo Monda, Monica I Cutrignelli, Antonietta Messina, Serena Calabrò, Heleena B Moni, Luigi Stradella, Giovanni Messina, Marcellino Monda, Marianna Crispino, Maria Pina Mollica
Excessive energy intake may evoke complex biochemical processes characterized by inflammation, oxidative stress, and impairment of mitochondrial function that represent the main factors underlying noncommunicable diseases. Because cow milk is widely used for human nutrition and in food industry processing, the nutritional quality of milk is of special interest with respect to human health. In our study, we analyzed milk produced by dairy cows fed a diet characterized by a high forage:concentrate ratio (high forage milk, HFM)...
December 28, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/29285794/glial-lipid-droplets-and-neurodegeneration-in-a-drosophila-model-of-complex-i-deficiency
#6
Marie-Jeanne Cabirol-Pol, Bilal Khalil, Thomas Rival, Catherine Faivre-Sarrailh, Marie Thérèse Besson
Mitochondrial defects associated with respiratory chain complex I deficiency lead to heterogeneous fatal syndromes. While the role of NDUFS8, an essential subunit of the core assembly of the complex I, is established in mitochondrial diseases, the mechanisms underlying neuropathology are poorly understood. We developed a Drosophila model of NDUFS8 deficiency by knocking down the expression of its fly homologue in neurons or in glial cells. Downregulating ND23 in neurons resulted in shortened lifespan, and decreased locomotion...
December 29, 2017: Glia
https://www.readbyqxmd.com/read/29283441/pathological-mechanisms-underlying-single-large-scale-mitochondrial-dna-deletions
#7
Mariana C Rocha, Hannah S Rosa, John P Grady, Emma L Blakely, Langping He, Nadine Romain, Ronald G Haller, Jane Newman, Robert McFarland, Yi Shiau Ng, Grainne S Gorman, Andrew M Schaefer, Helen A Tuppen, Robert W Taylor, Doug M Turnbull
OBJECTIVE: Single, large-scale deletions in mitochondrial DNA (mtDNA) are a common cause of mitochondrial disease. This study aimed to investigate the relationship between the genetic defect and molecular phenotype to improve understanding of pathogenic mechanisms associated with single, large-scale mtDNA deletions in skeletal muscle. METHODS: We investigated 23 muscle biopsies taken from adult patients (6 males/17 females with a mean age of 43y) with characterised single, large-scale mtDNA deletions...
December 28, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29275365/2-methoxyestradiol-affects-mitochondrial-biogenesis-pathway-and-succinate-dehydrogenase-complex-flavoprotein-subunit-a-in-osteosarcoma-cancer-cells
#8
Magdalena Gorska-Ponikowska, Alicja Kuban-Jankowska, Stephan A Eisler, Ugo Perricone, Giosuè Lo Bosco, Giampaolo Barone, Stephan Nussberger
BACKGROUND/AIM: Dysregulation of mitochondrial pathways is implicated in several diseases, including cancer. Notably, mitochondrial respiration and mitochondrial biogenesis are favored in some invasive cancer cells, such as osteosarcoma. Hence, the aim of the current work was to investigate the effects of 2-methoxyestradiol (2-ME), a potent anticancer agent, on the mitochondrial biogenesis of osteosarcoma cells. MATERIALS AND METHODS: Highly metastatic osteosarcoma 143B cells were treated with 2-ME separately or in combination with L-lactate, or with the solvent (non-treated control cells)...
January 2018: Cancer Genomics & Proteomics
https://www.readbyqxmd.com/read/29237825/mitochondrial-ca2-transport-in-the-endothelium-regulation-by-ions-redox-signalling-and-mechanical-forces
#9
REVIEW
B Rita Alevriadou, Santhanam Shanmughapriya, Akshar Patel, Peter B Stathopulos, Muniswamy Madesh
Calcium (Ca2+) transport by mitochondria is an important component of the cell Ca2+ homeostasis machinery in metazoans. Ca2+ uptake by mitochondria is a major determinant of bioenergetics and cell fate. Mitochondrial Ca2+ uptake occurs via the mitochondrial Ca2+ uniporter (MCU) complex, an inner mitochondrial membrane protein assembly consisting of the MCU Ca2+ channel, as its core component, and the MCU complex regulatory/auxiliary proteins. In this review, we summarize the current knowledge on the molecular nature of the MCU complex and its regulation by intra- and extramitochondrial levels of divalent ions and reactive oxygen species (ROS)...
December 2017: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/29217137/atorvastatin-affects-negatively-respiratory-function-of-isolated-endothelial-mitochondria
#10
Izabela Broniarek, Wieslawa Jarmuszkiewicz
The purpose of this research was to elucidate the direct effects of two popular blood cholesterol-lowering drugs used to treat cardiovascular diseases, atorvastatin and pravastatin, on respiratory function, membrane potential, and reactive oxygen species formation in mitochondria isolated from human umbilical vein endothelial cells (EA.hy926 cell line). Hydrophilic pravastatin did not significantly affect endothelial mitochondria function. In contrast, hydrophobic calcium-containing atorvastatin induced a loss of outer mitochondrial membrane integrity, an increase in hydrogen peroxide formation, and reductions in maximal (phosphorylating or uncoupled) respiratory rate, membrane potential and oxidative phosphorylation efficiency...
January 1, 2018: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/29215849/-study-of-mitochondrial-dysfunction-using-cytoplasmic-hybrid
#11
V V Sinyov, M A Sazonova, V P Karagodin, A I Ryzhkova, E V Galitsyna, A A Melnichenko, N A Demakova, T P Shkurat, I A Sobenin, A N Orekhov
Aim. This review article describes literature sources devoted to the investigation of mitochondrial dysfunction using cytoplasmic hybrids (cybrids). The presented studies were carried out on cultures of cybrid cell lines HL60, MOL T-4, A549, 143B, HeLa, Arpe-19, HEK-293, SH-SY5Y and NT2. According to the analysis of scientific world literature, some of the most promising models for studying mitochondrial dysfunction are cell cultures without mitochondria (rho0) and cytoplasmic hybrids containing one or several mutations of mitochondrial genome...
April 2017: Patologicheskaia Fiziologiia i èksperimental'naia Terapiia
https://www.readbyqxmd.com/read/29211846/slc25a10-biallelic-mutations-in-intractable-epileptic-encephalopathy-with-complex-i-deficiency
#12
Giuseppe Punzi, Vito Porcelli, Matteo Ruggiu, Faruk Hossain, Alessio Menga, Pasquale Scarcia, Alessandra Castegna, Ruggiero Gorgoglione, Ciro L Pierri, Luna Laera, Francesco M Lasorsa, Eleonora Paradies, Isabella Pisano, Carlo M T Marobbio, Eleonora Lamantea, Daniele Ghezzi, Valeria Tiranti, Sergio Giannattasio, Maria A Donati, Renzo Guerrini, Luigi Palmieri, Ferdinando Palmieri, Anna De Grassi
Mitochondrial diseases are a plethora of inherited neuromuscular disorders sharing defects in mitochondrial respiration, but largely different from one another for genetic basis and pathogenic mechanism. Whole exome sequencing was performed in a familiar trio (trio-WES) with a child affected by severe epileptic encephalopathy associated to respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle. By trio-WES we identified biallelic mutations in SLC25A10, a nuclear gene encoding a member of the mitochondrial carrier family...
December 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29211771/short-term-succinic-acid-treatment-mitigates-cerebellar-mitochondrial-oxphos-dysfunction-neurodegeneration-and-ataxia-in-a-purkinje-specific-spinocerebellar-ataxia-type-1-sca1-mouse-model
#13
Austin Ferro, Emily Carbone, Jenny Zhang, Evan Marzouk, Monica Villegas, Asher Siegel, Donna Nguyen, Thomas Possidente, Jessilyn Hartman, Kailen Polley, Melissa A Ingram, Georgia Berry, Thomas H Reynolds, Bernard Possidente, Kimberley Frederick, Stephen Ives, Sarita Lagalwar
Mitochondrial dysfunction plays a significant role in neurodegenerative disease including ataxias and other movement disorders, particularly those marked by progressive degeneration in the cerebellum. In this study, we investigate the role of mitochondrial oxidative phosphorylation (OXPHOS) deficits in cerebellar tissue of a Purkinje cell-driven spinocerebellar ataxia type 1 (SCA1) mouse. Using RNA sequencing transcriptomics, OXPHOS complex assembly analysis and oxygen consumption assays, we report that in the presence of mutant polyglutamine-expanded ataxin-1, SCA1 mice display deficits in cerebellar OXPHOS complex I (NADH-coenzyme Q oxidoreductase)...
2017: PloS One
https://www.readbyqxmd.com/read/29209747/an-adverse-outcome-pathway-for-parkinsonian-motor-deficits-associated-with-mitochondrial-complex-i-inhibition
#14
REVIEW
Andrea Terron, Anna Bal-Price, Alicia Paini, Florianne Monnet-Tschudi, Susanne Hougaard Bennekou, Marcel Leist, Stefan Schildknecht
Epidemiological studies have observed an association between pesticide exposure and the development of Parkinson's disease, but have not established causality. The concept of an adverse outcome pathway (AOP) has been developed as a framework for the organization of available information linking the modulation of a molecular target [molecular initiating event (MIE)], via a sequence of essential biological key events (KEs), with an adverse outcome (AO). Here, we present an AOP covering the toxicological pathways that link the binding of an inhibitor to mitochondrial complex I (i...
December 5, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/29181510/neurologic-phenotypes-associated-with-mutations-in-rtn4ip1-opa10-in-children-and-young-adults
#15
Majida Charif, Alessia Nasca, Kyle Thompson, Sylvie Gerber, Christine Makowski, Neda Mazaheri, Céline Bris, David Goudenège, Andrea Legati, Reza Marrofian, Gholamreza Shariati, Eleonora Lamantea, Sila Hopton, Anna Ardissone, Isabella Moroni, Melania Giannotta, Corinna Siegel, Tim M Strom, Holger Prokisch, Catherine Vignal-Clermont, Sabine Derrien, Xavier Zanlonghi, Josseline Kaplan, Christian P Hamel, Stephanie Leruez, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Frances E White, Steven A Hardy, Inês A Barbosa, Michael A Simpson, Roshni Vara, Yaumara Perdomo Trujillo, Hamind Galehdari, Charu Deshpande, Tobias B Haack, Jean-Michel Rozet, Robert W Taylor, Daniele Ghezzi, Patrizia Amati-Bonneau, Guy Lenaers
Importance: Neurologic disorders with isolated symptoms or complex syndromes are relatively frequent among mitochondrial inherited diseases. Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. Objective: To define the spectrum of clinical phenotypes associated with mutations in RTN4IP1 encoding a mitochondrial quinone oxidoreductase. Design, Setting, and Participants: This study involved 12 individuals from 11 families with severe central nervous system diseases and optic atrophy...
November 27, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29176872/para-hydroxyphenylpyruvate-inhibits-the-pro-inflammatory-stimulation-of-macrophage-preventing-lps-mediated-nitro-oxidative-unbalance-and-immunometabolic-shift
#16
Rosella Scrima, Marta Menga, Consiglia Pacelli, Francesca Agriesti, Olga Cela, Claudia Piccoli, Antonella Cotoia, Alessandra De Gregorio, Julia V Gefter, Gilda Cinnella, Nazzareno Capitanio
Targeting metabolism is emerging as a promising therapeutic strategy for modulation of the immune response in human diseases. In the presented study we used the lipopolysaccharide (LPS)-mediated activation of RAW 264.7 macrophage-like cell line as a model to investigate changes in the metabolic phenotype and to test the effect of p-hydroxyphenylpyruvate (pHPP) on it. pHPP is an intermediate of the PHE/TYR catabolic pathway, selected as analogue of the ethyl pyruvate (EP), which proved to exhibit antioxidant and anti-inflammatory activities...
2017: PloS One
https://www.readbyqxmd.com/read/29174468/identification-and-characterization-of-the-novel-m-8305c-t-mttk-and-m-4440g-a-mttm-gene-mutations-causing-mitochondrial-myopathies
#17
Mauro Scarpelli, Lidia Carreño-Gago, Anna Russignan, Noemi de Luna, Clara Carnicer-Cáceres, Alessandra Ariatti, Lorenzo Verriello, Grazia Devigili, Paola Tonin, Elena Garcia-Arumi, Tomàs Pinós
We report on two novel mtDNA mutations in patients affected with mitochondrial myopathy. The first patient, a 44-year-old woman, had bilateral eyelid ptosis and the m.8305C>T mutation in the MTTK gene. The second patient, a 56-year-old man, had four-limb muscle weakness and the MTTM gene m.4440G>A mutation. Muscle biopsies in both patients showed ragged red fibers and numerous COX-negative fibers as well as a combined defect of complex I, III and IV activities. The two mutations were heteroplasmic and detected only in muscle tissue, with a higher mutation load in COX-negative fibers...
October 31, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29174113/ghrelin-protects-retinal-ganglion-cells-against-rotenone-via-inhibiting-apoptosis-restoring-mitochondrial-function-and-activating-akt-mtor-signaling
#18
Shenwen Liu, Sheng Chen, Jing Ren, Baijun Li, Bo Qin
Ghrelin, a 28-amino acid peptide hormone, has protective effects on neuronal cells. The present study aimed to examine the neuroprotective effects of ghrelin on the rat retinal ganglion cells in the rotenone-induced in vitro model of Parkinson's disease (PD). Cell viability and cell apoptosis were determined by MTT assay and flow cytometry, respectively. Mitochondrial functions were detected by mitochondrial complex I activity assay and mitochondrial membrane potential (MMP) assay. The mRNA and protein expression levels were determined by qRT-PCR and western blot, respectively...
November 21, 2017: Neuropeptides
https://www.readbyqxmd.com/read/29169728/morphological-analysis-of-mitochondria-for-evaluating-the-toxicity-of-%C3%AE-synuclein-in-transgenic-mice-and-isolated-preparations-by-atomic-force-microscopy
#19
Ge Gao, Zhipeng Wang, Lingling Lu, Chunli Duan, Xiaomin Wang, Hui Yang
A key molecular event in the pathogenesis of Parkinson's disease is mitochondrial damage caused by α-synuclein (α-syn). Mitochondria mediates both necrosis and apoptosis, which are associated with morphological changes. However, the mechanism by which α-syn alters mitochondrial morphology remains unclear. To address this issue, we investigated mitochondrial permeability transition pore (mPTP) opening and changes in cardiolipin (CL) levels in mitochondria isolated from the brain of Thy1α-syn mice. Cytoplasmic cytochrome C and cleaved caspase-3 protein levels were upregulated in the brain of transgenic mice...
November 20, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29164519/atorvastatin-prevents-early-oxidative-events-and-modulates-inflammatory-mediators-in-the-striatum-following-intranasal-1-methyl-4-phenyl-1-2-3-6-tetrahydropyridine-mptp-administration-in-rats
#20
Naiani F Marques, Adalberto A Castro, Gianni Mancini, Fernanda L Rocha, Adair R S Santos, Rui D Prediger, Andreza Fabro De Bem, Carla I Tasca
Atorvastatin is a 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase inhibitor with cholesterol-lowering, anti-inflammatory, and antioxidant properties. Increasing evidence show atorvastatin acts as a protective agent against insults in the central nervous system (CNS). The regular use of statins has been associated with a reduced risk of Parkinson's disease (PD) development. Here, we evaluated early events involved in the neurotoxicity induced by intranasal (i.n.) infusion of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) in rats and the potential of atorvastatin to prevent these early toxic events...
November 21, 2017: Neurotoxicity Research
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