keyword
MENU ▼
Read by QxMD icon Read
search

OXPHOS disorder

keyword
https://www.readbyqxmd.com/read/27826120/mitochondrial-oxidative-phosphorylation-disorders-in-children-phenotypic-genotypic-and-biochemical-correlations-in-85-patients-from-south-india
#1
Kothari Sonam, Parayil Sankaran Bindu, Mm Srinivas Bharath, Periyasamy Govindaraj, Narayanappa Gayathri, Hanumanthapura R Arvinda, Shwetha Chiplunkar, Madhu Nagappa, Sanjib Sinha, Nahid Akhtar Khan, Vandana Nunia, Arumugam Paramasivam, Kumarasamy Thangaraj, Arun B Taly
Mitochondrial oxidative phosphorylation (OXPHOS) disorders accounts for a variety of neuromuscular disorders in children. In this study mitochondrial respiratory chain enzymes were assayed in muscle tissue in a large cohort of children with varied neuromuscular presentations from June 2011 to December 2013. The biochemical enzyme deficiencies were correlated with the phenotypes, magnetic resonance imaging, histopathology and genetic findings to reach a final diagnosis. There were 85 children (mean age: 6.9±4...
November 5, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27812541/muscle-oxidative-phosphorylation-quantitation-using-creatine-chemical-exchange-saturation-transfer-crcest-mri-in-mitochondrial-disorders
#2
Catherine DeBrosse, Ravi Prakash Reddy Nanga, Neil Wilson, Kevin D'Aquilla, Mark Elliott, Hari Hariharan, Felicia Yan, Kristin Wade, Sara Nguyen, Diana Worsley, Chevonne Parris-Skeete, Elizabeth McCormick, Rui Xiao, Zuela Zolkipli Cunningham, Lauren Fishbein, Katherine L Nathanson, David R Lynch, Virginia A Stallings, Marc Yudkoff, Marni J Falk, Ravinder Reddy, Shana E McCormack
Systemic mitochondrial energy deficiency is implicated in the pathophysiology of many age-related human diseases. Currently available tools to estimate mitochondrial oxidative phosphorylation (OXPHOS) capacity in skeletal muscle in vivo lack high anatomic resolution. Muscle groups vary with respect to their contractile and metabolic properties. Therefore, muscle group-specific estimates of OXPHOS would be advantageous. To address this need, a noninvasive creatine chemical exchange saturation transfer (CrCEST) MRI technique has recently been developed, which provides a measure of free creatine...
November 3, 2016: JCI Insight
https://www.readbyqxmd.com/read/27713486/the-phasor-flim-fingerprints-reveal-shifts-from-oxphos-to-enhanced-glycolysis-in-huntington-disease
#3
Sara Sameni, Adeela Syed, J Lawrence Marsh, Michelle A Digman
Huntington disease (HD) is an autosomal neurodegenerative disorder caused by the expansion of Polyglutamine (polyQ) in exon 1 of the Huntingtin protein. Glutamine repeats below 36 are considered normal while repeats above 40 lead to HD. Impairment in energy metabolism is a common trend in Huntington pathogenesis; however, this effect is not fully understood. Here, we used the phasor approach and Fluorescence Lifetime Imaging Microscopy (FLIM) to measure changes between free and bound fractions of NADH as a indirect measure of metabolic alteration in living cells...
October 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27696117/pathogenic-variants-in-htra2-cause-an-early-onset-mitochondrial-syndrome-associated-with-3-methylglutaconic-aciduria
#4
Monika Oláhová, Kyle Thompson, Steven A Hardy, Inês A Barbosa, Arnaud Besse, Maria-Eleni Anagnostou, Kathryn White, Tracey Davey, Michael A Simpson, Michael Champion, Greg Enns, Susan Schelley, Robert N Lightowlers, Zofia M A Chrzanowska-Lightowlers, Robert McFarland, Charu Deshpande, Penelope E Bonnen, Robert W Taylor
Mitochondrial diseases collectively represent one of the most heterogeneous group of metabolic disorders. Symptoms can manifest at any age, presenting with isolated or multiple-organ involvement. Advances in next-generation sequencing strategies have greatly enhanced the diagnosis of patients with mitochondrial disease, particularly where a mitochondrial aetiology is strongly suspected yet OXPHOS activities in biopsied tissue samples appear normal. We used whole exome sequencing (WES) to identify the molecular basis of an early-onset mitochondrial syndrome-pathogenic biallelic variants in the HTRA2 gene, encoding a mitochondria-localised serine protease-in five subjects from two unrelated families characterised by seizures, neutropenia, hypotonia and cardio-respiratory problems...
September 30, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27666594/bromodomain-inhibitors-correct-bioenergetic-deficiency-caused-by-mitochondrial-disease-complex-i-mutations
#5
Joeva J Barrow, Eduardo Balsa, Francisco Verdeguer, Clint D J Tavares, Meghan S Soustek, Louis R Hollingsworth, Mark Jedrychowski, Rutger Vogel, Joao A Paulo, Jan Smeitink, Steve P Gygi, John Doench, David E Root, Pere Puigserver
Mitochondrial diseases comprise a heterogeneous group of genetically inherited disorders that cause failures in energetic and metabolic function. Boosting residual oxidative phosphorylation (OXPHOS) activity can partially correct these failures. Herein, using a high-throughput chemical screen, we identified the bromodomain inhibitor I-BET 525762A as one of the top hits that increases COX5a protein levels in complex I (CI) mutant cybrid cells. In parallel, bromodomain-containing protein 4 (BRD4), a target of I-BET 525762A, was identified using a genome-wide CRISPR screen to search for genes whose loss of function rescues death of CI-impaired cybrids grown under conditions requiring OXPHOS activity for survival...
October 6, 2016: Molecular Cell
https://www.readbyqxmd.com/read/27618766/myoclonus-epilepsy-in-mitochondrial-disorders
#6
Costanza Lamperti, Massimo Zeviani
Mitochondrial disorders is a group of clinical entities associated with abnormalities of the mitochondrial respiratory chain (MRC), which carries out the oxidative phosphorylation (OXPHOS) of ADP into ATP. As the MRC is the result of genetic complementation between two separate genomes, nuclear and mitochondrial, OXPHOS failure can derive from mutations in either nuclear-encoded, or mitochondrial-encoded, genes. Epilepsy is a relatively common feature of mitochondrial disease, especially in early-onset encephalopathies of infants and children...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27597947/dynamics-of-human-mitochondrial-complex-i-assembly-implications-for-neurodegenerative-diseases
#7
REVIEW
Gabriele Giachin, Romain Bouverot, Samira Acajjaoui, Serena Pantalone, Montserrat Soler-López
Neurons are extremely energy demanding cells and highly dependent on the mitochondrial oxidative phosphorylation (OXPHOS) system. Mitochondria generate the energetic potential via the respiratory complexes I to IV, which constitute the electron transport chain (ETC), together with complex V. These redox reactions release energy in the form of ATP and also generate reactive oxygen species (ROS) that are involved in cell signaling but can eventually lead to oxidative stress. Complex I (CI or NADH:ubiquinone oxidoreductase) is the largest ETC enzyme, containing 44 subunits and the main contributor to ROS production...
2016: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/27587988/primary-mitochondrial-disease-and-secondary-mitochondrial-dysfunction-importance-of-distinction-for-diagnosis-and-treatment
#8
REVIEW
Dmitriy M Niyazov, Stephan G Kahler, Richard E Frye
Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective cellular energy production due to abnormal oxidative phosphorylation (oxphos). Primary mitochondrial disease (PMD) is diagnosed clinically and ideally, but not always, confirmed by a known or indisputably pathogenic mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) mutation. The PMD genes either encode oxphos proteins directly or they affect oxphos function by impacting production of the complex machinery needed to run the oxphos process...
July 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27557565/moderate-traumatic-brain-injury-is-linked-to-acute-behaviour-deficits-and-long-term-mitochondrial-alterations
#9
Hui Chen, Yik Lung Chan, Long The Nguyen, Yilin Mao, Alicia De Rosa, Ing Tsyr Beh, Candice Chee, Brian Oliver, George Herok, Sonia Saad, Catherine Gorrie
Traumatic brain injury (TBI) remains one of the leading causes of death and disability worldwide. Mild TBI may lead to neuropsychiatric sequelae, including memory loss and motor impairment. Mitochondrial dysfunction and oxidative stress have a contributory role in several neurological disorders; however, their association with mitophagy in mild TBI is unclear. TBI was induced in female Sprague Dawley (SD) rats using a New York University Impactor (10g, impactor head 2.5mm diameter, weight drop 50mm) and compared to sham surgery controls...
August 25, 2016: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/27501303/analysis-of-brain-mitochondria-using-serial-block-face-scanning-electron-microscopy
#10
Konark Mukherjee, Helen R Clark, Vrushali Chavan, Emily K Benson, Grahame J Kidd, Sarika Srivastava
Human brain is a high energy consuming organ that mainly relies on glucose as a fuel source. Glucose is catabolized by brain mitochondria via glycolysis, tri-carboxylic acid (TCA) cycle and oxidative phosphorylation (OXPHOS) pathways to produce cellular energy in the form of adenosine triphosphate (ATP). Impairment of mitochondrial ATP production causes mitochondrial disorders, which present clinically with prominent neurological and myopathic symptoms. Mitochondrial defects are also present in neurodevelopmental disorders (e...
2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27466199/disrupted-in-schizophrenia-1-disc1-is-a-constituent-of-the-mammalian-mitochondrial-contact-site-and-cristae-organizing-system-micos-complex-and-is-essential-for-oxidative-phosphorylation
#11
Estefanía Piñero-Martos, Bernardo Ortega-Vila, Josep Pol-Fuster, Eugenia Cisneros-Barroso, Laura Ruiz-Guerra, Aina Medina-Dols, Damián Heine-Suñer, Jerònia Lladó, Gabriel Olmos, Cristofol Vives-Bauzà
Disrupted in Schizophrenia-1 (DISC1) has been associated with a broad spectrum of mental disorders. DISC1 is a multi-compartmentalized protein found in the cytoplasm, centrosome, nuclei and mostly enriched in mitochondria. In order to shed light on DISC1 mitochondrial function, we have studied its topology within the organelle. We show in here that in mammals DISC1 resides in the "Mitochondrial contact site and Cristae Organizing system" (MICOS) complex, involved in cristae organization. DISC1 knockdown in SH-SY5Y cells causes MICOS disassembly and fragmentation of the mitochondrial morphology network...
July 27, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27434059/deficiency-in-cardiolipin-reduces-doxorubicin-induced-oxidative-stress-and-mitochondrial-damage-in-human-b-lymphocytes
#12
Baikuntha Aryal, V Ashutosh Rao
Cardiolipin (CL) is an inner mitochondrial membrane phospholipid which plays an important role in mitochondrial function. Perturbation in CL biosynthesis alters mitochondrial bioenergetics causing a severe genetic disorder commonly known as Barth syndrome. Barth syndrome patients are known to have a reduced concentration and altered composition of CL. Cardiolipin is also known to have a high affinity for the chemotherapeutic agent doxorubicin (Dox), resulting in an extensive mitochondrial accumulation of the drug...
2016: PloS One
https://www.readbyqxmd.com/read/27412728/mitochondrial-oxidative-phosphorylation-system-oxphos-deficits-in-schizophrenia-possible-interactions-with-cellular-processes
#13
Oded Bergman, Dorit Ben-Shachar
Mitochondria are key players in the generation and regulation of cellular bioenergetics, producing the majority of adenosine triphosphate molecules by the oxidative phosphorylation system (OXPHOS). Linked to numerous signaling pathways and cellular functions, mitochondria, and OXPHOS in particular, are involved in neuronal development, connectivity, plasticity, and differentiation. Impairments in a variety of mitochondrial functions have been described in different general and psychiatric disorders, including schizophrenia (SCZ), a severe, chronic, debilitating illness that heavily affects the lives of patients and their families...
August 2016: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/27374853/secondary-coenzyme-q10-deficiencies-in-oxidative-phosphorylation-oxphos-and-non-oxphos-disorders
#14
Delia Yubero, Raquel Montero, Miguel A Martín, Julio Montoya, Antonia Ribes, Manuela Grazina, Eva Trevisson, Juan Carlos Rodriguez-Aguilera, Iain P Hargreaves, Leonardo Salviati, Plácido Navas, Rafael Artuch, Cristina Jou, Cecilia Jimenez-Mallebrera, Andres Nascimento, Belén Pérez-Dueñas, Carlos Ortez, Federico Ramos, Jaume Colomer, Mar O'Callaghan, Mercè Pineda, Angels García-Cazorla, Carmina Espinós, Angels Ruiz, Alfons Macaya, Anna Marcé-Grau, Judit Garcia-Villoria, Angela Arias, Sonia Emperador, Eduardo Ruiz-Pesini, Ester Lopez-Gallardo, Viruna Neergheen, Marta Simões, Luisa Diogo, Alberto Blázquez, Adrián González-Quintana, Aitor Delmiro, Cristina Domínguez-González, Joaquín Arenas, M Teresa García-Silva, Elena Martín, Pilar Quijada, Aurelio Hernández-Laín, María Morán, Eloy Rivas Infante, Rainiero Ávila Polo, Carmen Paradas Lópe, Juan Bautista Lorite, Eva M Martínez Fernández, Ana B Cortés, Ana Sánchez-Cuesta, Maria V Cascajo, María Alcázar, Gloria Brea-Calvo
We evaluated the coenzyme Q₁₀ (CoQ) levels in patients who were diagnosed with mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n=72). Data from the 72 cases in this study revealed that 44.4% of patients showed low CoQ concentrations in either their skeletal muscle or skin fibroblasts. Our findings suggest that secondary CoQ deficiency is a common finding in OXPHOS and non-OXPHOS disorders. We hypothesize that cases of CoQ deficiency associated with OXPHOS defects could be an adaptive mechanism to maintain a balanced OXPHOS, although the mechanisms explaining these deficiencies and the pathophysiological role of secondary CoQ deficiency deserves further investigation...
September 2016: Mitochondrion
https://www.readbyqxmd.com/read/27372878/is-age-related-failure-of-metabolic-reprogramming-a-principal-mediator-in-idiopathic-parkinson-s-disease-implications-for-treatment-and-inverse-cancer-risk
#15
Peter A Engel
Idiopathic Parkinson's disease (IPD) is a neurodegenerative disorder characterized by selective degeneration of the substantia nigra pars compacta (SNc), dorsal motor nucleus of the vagus and other vulnerable nervous system regions characterized by extensive axonal arborization and intense energy requirements. Systemic age-related depression of mitochondrial function, oxidative phosphorylation (OXPHOS) and depressed expression of genes supporting energy homeostasis is more severe in IPD than normal aging such that energy supply may exceed regional demand...
August 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27356774/application-of-mitochondria-targeted-pharmaceuticals-for-the-treatment-of-heart-disease
#16
Ryan J Mailloux
BACKGROUND: Mitochondria fulfill the massive energy demands of the human heart through oxidative phosphorylation (OXPHOS) which couples nutrient oxidation and the reduction of molecular oxygen (O2) to the phosphorylation of ADP. Reactive oxygen species (ROS) are also generated during OXPHOS which can be damaging at high levels but serve as secondary messengers when produced in a controlled manner. METHODS: Here, I review how disruption of control over mitochondrial ROS production can lead to the pathogenesis of a range of cardiovascular diseases (CVD) including decompensated left ventricular hypertrophy, alcoholic and diabetic hypertrophy, myocardial infarction (MI), ischemic-reperfusion injury (IR), and heart failure...
June 28, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27335370/warburg-effect-linked-to-cognitive-executive-deficits-in-fmr1-premutation
#17
Eleonora Napoli, Gyu Song, Andrea Schneider, Randi Hagerman, Marwa Abd Al Azaim Eldeeb, Atoosa Azarang, Flora Tassone, Cecilia Giulivi
A 55-200 CGG repeat expansion in the 5'-UTR of the fragile X mental retardation 1 (FMR1) gene is known as a premutation. Some carriers are affected by the neurodegenerative disorder fragile X-associated tremor/ataxia syndrome (FXTAS), primary ovarian insufficiency, and neurobehavioral impairments. Based on the mitochondrial dysfunction observed in fibroblasts and brain samples from carriers, as well as in neurons and brains from a mouse model of the premutation, we evaluated the presence of the Warburg effect in peripheral blood mononuclear cells (PBMCs) from 30 premutation carriers with either a rebalance of the metabolism [increasing glycolysis while decreasing oxidative phosphorylation (oxphos)] or a metabolic amplification (increasing glycolysis while maintaining/increasing oxphos)...
October 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/27173380/doubling-diet-fat-on-sugar-ratio-in-children-with-mitochondrial-oxphos-disorders-effects-of-a-randomized-trial-on-resting-energy-expenditure-diet-induced-thermogenesis-and-body-composition
#18
Laurent Béghin, Stéphanie Coopman, Manuel Schiff, Joseph Vamecq, Karine Mention-Mulliez, Régis Hankard, Jean-Marie Cuisset, Hélène Ogier, Frédéric Gottrand F, Dries Dobbelaere
BACKGROUND & AIMS: Mitochondrial OXPHOS disorders (MODs) affect one or several complexes of respiratory chain oxidative phosphorylation. An increased fat/low-carbohydrate ratio of the diet was recommended for treating MODs without, however, evaluating its potential benefits through changes in the respective contributions of cell pathways (glycolysis, fatty acid oxidation) initiating energy production. Therefore, the objective of the present work was to compare Resting Energy Expenditure (REE) under basal diet (BD) and challenging diet (CD) in which fat on sugar content ratio was doubled...
April 8, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/27129022/effects-of-tributyltin-chloride-on-cybrids-with-or-without-an-atp-synthase-pathologic-mutation
#19
Ester López-Gallardo, Laura Llobet, Sonia Emperador, Julio Montoya, Eduardo Ruiz-Pesini
BACKGROUND: The oxidative phosphorylation system (OXPHOS) includes nuclear chromosome (nDNA)- and mitochondrial DNA (mtDNA)-encoded polypeptides. Many rare OXPHOS disorders, such as striatal necrosis syndromes, are caused by genetic mutations. Despite important advances in sequencing procedures, causative mutations remain undetected in some patients. It is possible that etiologic factors, such as environmental toxins, are the cause of these cases. Indeed, the inhibition of a particular enzyme by a poison could imitate the biochemical effects of pathological mutations in that enzyme...
September 2016: Environmental Health Perspectives
https://www.readbyqxmd.com/read/27114639/atrazine-exposure-causes-mitochondrial-toxicity-in-liver-and-muscle-cell-lines
#20
Sneha Sagarkar, Deepa Gandhi, S Saravana Devi, Amul Sakharkar, Atya Kapley
OBJECTIVE: Chronic exposure to atrazine and other pesticides is reported to cause metabolic disorders, yet information on effects of atrazine on expression of genes relevant to mitochondrial function is largely missing. In the present study, therefore, we investigated the expression of a battery of nuclear- and mitochondrial-encoded genes involved in oxidative phosphorylation (OXPHOS) in human liver (HepG2) and rat muscle (L6) cell lines due to short-term atrazine exposure. MATERIALS AND METHODS: We have determined the EC50 values of atrazine for cytotoxicity and mitochondrial toxicity (mitotoxicity) in terms of adenosine triphosphate (ATP) content in HepG2 and L6 cells...
March 2016: Indian Journal of Pharmacology
keyword
keyword
47896
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"