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respiratory chain complex disorders

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https://www.readbyqxmd.com/read/27881655/porcine-reproductive-and-respiratory-syndrome-virus-nsp1%C3%AE-inhibits-nf-%C3%AE%C2%BAb-activation-by-targeting-linear-ubiquitin-chain-assembly-complex-lubac
#1
Huiyuan Jing, Liurong Fang, Zhen Ding, Dang Wang, Wenqi Hao, Li Gao, Wenting Ke, Huanchun Chen, Shaobo Xiao
: Linear ubiquitination, a newly discovered posttranslational modification, is catalyzed by the linear ubiquitin chain assembly complex (LUBAC), which is composed of three subunits: one catalytic subunit HOIP and two accessory molecules, HOIL-1L and SHARPIN. Accumulating evidence suggests that linear ubiquitination plays a crucial role in innate immune signaling and especially in the activation of the NF-κB pathway by conjugating linear polyubiquitin chains to NF-κB essential modulator (NEMO, also called IKKγ), the regulatory subunit of the IKK complex...
November 23, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27843288/leber-s-hereditary-optic-neuropathy-is-multiorgan-not-mono-organ
#2
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder with bilateral loss of central vision primarily due to mitochondrial DNA (mtDNA) mutations in subunits of complex I in the respiratory chain (primary LHON mutations), while other mtDNA mutations can also be causative. Since the first description, it is known that LHON is not restricted to the eyes but is a multisystem disorder additionally involving the central nervous system, ears, endocrinological organs, heart, bone marrow, arteries, kidneys, or the peripheral nervous system...
2016: Clinical Ophthalmology
https://www.readbyqxmd.com/read/27826120/mitochondrial-oxidative-phosphorylation-disorders-in-children-phenotypic-genotypic-and-biochemical-correlations-in-85-patients-from-south-india
#3
Kothari Sonam, Parayil Sankaran Bindu, M M 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/27817865/mecr-mutations-cause-childhood-onset-dystonia-and-optic-atrophy-a-mitochondrial-fatty-acid-synthesis-disorder
#4
Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J Kastaniotis, Bruria Ben-Zeev, Susan J Hayflick
Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defective mtFAS. Seven individuals from five unrelated families presented with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on MRI. All affected individuals were found to harbor recessive mutations in MECR encoding the mitochondrial trans-2-enoyl-coenzyme A-reductase involved in human mtFAS...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27815843/coxpd9-an-evolving-multisystem-disease-congenital-lactic-acidosis-sensorineural-hearing-loss-hypertrophic-cardiomyopathy-cirrhosis-and-interstitial-nephritis
#5
C Bursle, A Narendra, R Chuk, J Cardinal, R Justo, B Lewis, D Coman
We present the second report of combined oxidative phosphorylation deficiency-9. The infant presented in the neonatal period with poor feeding, lactic acidosis and sensorineural hearing loss. He subsequently developed a lethal hypertrophic cardiomyopathy during infancy. Cirrhosis and interstitial nephritis were identified at autopsy. Exome sequencing has detected compound heterozygous mutations in the MRPL3 gene which encodes a large mitochondrial ribosome subunit protein. We identified a known heterozygous variant NM_007208 c...
November 5, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27815040/the-addition-of-ketone-bodies-alleviates-mitochondrial-dysfunction-by-restoring-complex-i-assembly-in-a-melas-cellular-model
#6
Samuel Frey, Guillaume Geffroy, Valerie Desquiret-Dumas, Naig Gueguen, Celine Bris, Sophie Belal, Patrizia Amati-Bonneau, Arnaud Chevrollier, Magalie Barth, Daniel Henrion, Guy Lenaers, Dominique Bonneau, Pascal Reynier, Vincent Procaccio
Ketogenic Diet used to treat refractory epilepsy for almost a century may represent a treatment option for mitochondrial disorders for which effective treatments are still lacking. Mitochondrial complex I deficiencies are involved in a broad spectrum of inherited diseases including Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes syndrome leading to recurrent cerebral insults resembling strokes and associated with a severe complex I deficiency caused by mitochondrial DNA (mtDNA) mutations...
November 1, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27809283/effect-of-high-carbohydrate-diet-on-plasma-metabolome-in-mice-with-mitochondrial-respiratory-chain-complex-iii-deficiency
#7
Jayasimman Rajendran, Nikica Tomašić, Heike Kotarsky, Eva Hansson, Vidya Velagapudi, Jukka Kallijärvi, Vineta Fellman
Mitochondrial disorders cause energy failure and metabolic derangements. Metabolome profiling in patients and animal models may identify affected metabolic pathways and reveal new biomarkers of disease progression. Using liver metabolomics we have shown a starvation-like condition in a knock-in (Bcs1l(c.232A>G)) mouse model of GRACILE syndrome, a neonatal lethal respiratory chain complex III dysfunction with hepatopathy. Here, we hypothesized that a high-carbohydrate diet (HCD, 60% dextrose) will alleviate the hypoglycemia and promote survival of the sick mice...
November 1, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27794108/fgf21-is-a-biomarker-for-mitochondrial-translation-and-mtdna-maintenance-disorders
#8
Jenni M Lehtonen, Saara Forsström, Emanuela Bottani, Carlo Viscomi, Olivier R Baris, Helena Isoniemi, Krister Höckerstedt, Pia Österlund, Mikko Hurme, Juulia Jylhävä, Sirpa Leppä, Ritva Markkula, Tiina Heliö, Giuliana Mombelli, Johanna Uusimaa, Reijo Laaksonen, Hannu Laaksovirta, Mari Auranen, Massimo Zeviani, Jan Smeitink, Rudolf J Wiesner, Kazuto Nakada, Pirjo Isohanni, Anu Suomalainen
OBJECTIVE: To validate new mitochondrial myopathy serum biomarkers for diagnostic use. METHODS: We analyzed serum FGF21 (S-FGF21) and GDF15 from patients with (1) mitochondrial diseases and (2) nonmitochondrial disorders partially overlapping with mitochondrial disorder phenotypes. We (3) did a meta-analysis of S-FGF21 in mitochondrial disease and (4) analyzed S-Fgf21 and skeletal muscle Fgf21 expression in 6 mouse models with different muscle-manifesting mitochondrial dysfunctions...
October 28, 2016: Neurology
https://www.readbyqxmd.com/read/27791355/human-coa3-is-an-oligomeric-highly-flexible-protein-in-solution
#9
Jose Luis Neira, Sergio Martinez-Rodriguez, José Ginés Hernández Cifre, Ana Camara-Artigas, Paula Clemente, Susana Peralta, Miguel Ángel Fernández-Moreno, Rafael Garesse, Jose Garcia de la Torre, Bruno Rizzuti
The assembly of the protein complex of cytochrome c oxidase (COX), which participates in the mitochondrial respiratory chain, requires a large number of accessory proteins (the so-called assembly factors). The human COX assembly factor 3 (hCOA3), also known as MITRAC12 or coiled-coil domain-containing protein 56 (CCDC56), interacts with the first subunit protein of COX to form its catalytic core and promotes its assemblage with the other units. Therefore, hCOA3 is involved in COX biogenesis in humans, and it can be exploited as a drug-target in patients with mitochondrial dysfunctions...
October 28, 2016: Biochemistry
https://www.readbyqxmd.com/read/27771901/impaired-mitochondrial-function-and-dynamics-in-the-pathogenesis-of-fxtas
#10
M I Alvarez-Mora, L Rodriguez-Revenga, I Madrigal, M Guitart-Mampel, G Garrabou, M Milà
Mitochondrial involvement plays an important role in neurodegenerative diseases. At least one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of presenting an adult-onset neurodegenerative disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). In an attempt to provide new insights into the mechanisms involved in the pathogenesis of FXTAS, we characterized mitochondrial function and dynamics by the assessment of oxidative respiratory chain function, mitochondrial content, oxidative stress levels, and mitochondrial network complexity...
October 22, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27752381/mitochondrial-disease-as-a-cause-of-neonatal-hemophagocytic-lymphohistiocytosis
#11
Kazumasa Fuwa, Mitsuru Kubota, Masami Kanno, Hiroshi Miyabayashi, Ken Kawabata, Keiichi Kanno, Masaki Shimizu
Diagnosis of mitochondrial respiratory chain disorder (MRCD) is often difficult. Its pathogenesis is still unclear. We diagnosed MRCD by measuring the activity of the mitochondrial respiratory chain enzyme, and the patient also had hemophagocytic lymphohistiocytosis (HLH). A preterm female infant was born at 34 weeks of gestation. On day 6, HLH was revealed by bone marrow aspiration. She died on day 10 due to uncontrollable HLH. An autopsy was performed, and we measured the activity of the mitochondrial respiratory chain enzyme in the liver, muscle, and heart...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27722792/decreased-sensitivity-of-palmitoyl-protein-thioesterase-1-deficient-neurons-to-chemical-anoxia
#12
Meredith Meyer, Attila D Kovács, David A Pearce
Infantile CLN1 disease, also known as infantile neuronal ceroid lipofuscinosis, is a fatal childhood neurodegenerative disorder caused by mutations in the CLN1 gene. CLN1 encodes a soluble lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1), and it is still unclear why neurons are selectively vulnerable to the loss of PPT1 enzyme activity in infantile CLN1 disease. To examine the effects of PPT1 deficiency on several well-defined neuronal signaling and cell death pathways, different toxic insults were applied in cerebellar granule neuron cultures prepared from wild type (WT) and palmitoyl protein thioesterase 1-deficient (Ppt1 (-/-) ) mice, a model of infantile CLN1 disease...
October 8, 2016: Metabolic Brain Disease
https://www.readbyqxmd.com/read/27697518/metabolic-flexibility-of-mitochondrial-respiratory-chain-disorders-predicted-by-computer-modelling
#13
Łukasz P Zieliński, Anthony C Smith, Alexander G Smith, Alan J Robinson
Mitochondrial respiratory chain dysfunction causes a variety of life-threatening diseases affecting about 1 in 4300 adults. These diseases are genetically heterogeneous, but have the same outcome; reduced activity of mitochondrial respiratory chain complexes causing decreased ATP production and potentially toxic accumulation of metabolites. Severity and tissue specificity of these effects varies between patients by unknown mechanisms and treatment options are limited. So far most research has focused on the complexes themselves, and the impact on overall cellular metabolism is largely unclear...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27696117/pathogenic-variants-in-htra2-cause-an-early-onset-mitochondrial-syndrome-associated-with-3-methylglutaconic-aciduria
#14
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/27695613/mitochondrial-genetic-variation-in-iranian-infertile-men-with-varicocele
#15
Mohammad Mehdi Heidari, Mehri Khatami, Amirhossein Danafar, Tahere Dianat, Ghazaleh Farahmand, Ali Reza Talebi
BACKGROUND: Several recent studies have shown that mitochondrial DNA mutations lead to major disabilities and premature death in carriers. More than 150 mutations in human mitochondrial DNA (mtDNA) genes have been associated with a wide spectrum of disorders. Varicocele, one of the causes of infertility in men wherein abnormal inflexion and distension of veins of the pampiniform plexus is observed within spermatic cord, can increase reactive oxygen species (ROS) production in semen and cause oxidative stress and sperm dysfunction in patients...
October 2016: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/27683074/sdha-mutation-with-dominant-transmission-results-in-complex-ii-deficiency-with-ocular-cardiac-and-neurologic-involvement
#16
Carolina Courage, Christopher B Jackson, Dagmar Hahn, Liliya Euro, Jean-Marc Nuoffer, Sabina Gallati, André Schaller
Isolated defects of the mitochondrial respiratory complex II (succinate dehydrogenase, SDH) are rare, accounting for approximately 2% of all respiratory chain deficiency diagnoses. Here, we report clinical and molecular investigations of three family members with a heterozygous mutation in the large flavoprotein subunit SDHA previously described to cause complex II deficiency. The index patient presented with bilateral optic atrophy and ocular movement disorder, a progressive polyneuropathy, psychiatric involvement, and cardiomyopathy...
September 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27651038/a-novel-sucla2-mutation-presenting-as-a-complex-childhood-movement-disorder
#17
Caterina Garone, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, Sindu Krishna, Ali Naini, Catarina M Quinzii, Michio Hirano
SUCLA2 defects have been associated with mitochondrial DNA (mtDNA) depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myopathy, ataxia, and chorea. Despite the prominent movement disorder, brain magnetic resonance imaging (MRI) was normal while (1)H-magnetic resonance spectroscopy (MRS) showed lactate peaks in the cerebral cortex and lateral ventricles. Decreased biochemical activities of mitochondrial respiratory chain enzymes containing mtDNA-encoded subunits and mtDNA depletion were observed in muscle and fibroblasts...
September 20, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27623250/exome-sequencing-coupled-with-mrna-analysis-identifies-ndufaf6-as-a-leigh-gene
#18
Laura Bianciardi, Valentina Imperatore, Erika Fernandez-Vizarra, Angela Lopomo, Micol Falabella, Simone Furini, Paolo Galluzzi, Salvatore Grosso, Massimo Zeviani, Alessandra Renieri, Francesca Mari, Elisa Frullanti
We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome analysis using autosomal/X-linked recessive or de novo models. Dosage of respiratory chain activity on fibroblasts, but not in muscle, underlined a deficit in complex I. Re-analysis of heterozygous probably pathogenic variants, inherited from one healthy parent, identified the p...
September 3, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27597947/dynamics-of-human-mitochondrial-complex-i-assembly-implications-for-neurodegenerative-diseases
#19
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/27571996/lethal-neonatal-ltbl-associated-with-biallelic-ears2-variants-case-report-and-review-of-the-reported-neuroradiological-features
#20
Renata Oliveira, Ewen W Sommerville, Kyle Thompson, Joana Nunes, Angela Pyle, Manuela Grazina, Patrick F Chinnery, Luísa Diogo, Paula Garcia, Robert W Taylor
Mitochondrial translation defects are important causes of early onset mitochondrial disease. Although the biochemical (combined respiratory chain deficiency) signature and neuroimaging are usually distinctive, they are not diagnostic as the genetic origin of mitochondrial translation defects is heterogeneous. We report a female child, born at term to non-consanguineous parents, who exhibited global hypotonia, failure to thrive, persistent and progressive hyperlactacidaemia with lactic acidosis, liver dysfunction and encephalopathy and died at the age of 5 months...
August 30, 2016: JIMD Reports
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