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respiratory chain complex disorders

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https://www.readbyqxmd.com/read/29784770/tlr-activated-repression-of-fe-s-cluster-biogenesis-drives-a-metabolic-shift-and-alters-histone-and-tubulin-acetylation
#1
Wing-Hang Tong, Nunziata Maio, De-Liang Zhang, Erika M Palmieri, Hayden Ollivierre, Manik C Ghosh, Daniel W McVicar, Tracey A Rouault
Given the essential roles of iron-sulfur (Fe-S) cofactors in mediating electron transfer in the mitochondrial respiratory chain and supporting heme biosynthesis, mitochondrial dysfunction is a common feature in a growing list of human Fe-S cluster biogenesis disorders, including Friedreich ataxia and GLRX5-related sideroblastic anemia. Here, our studies showed that restriction of Fe-S cluster biogenesis not only compromised mitochondrial oxidative metabolism but also resulted in decreased overall histone acetylation and increased H3K9me3 levels in the nucleus and increased acetylation of α-tubulin in the cytosol by decreasing the lipoylation of the pyruvate dehydrogenase complex, decreasing levels of succinate dehydrogenase and the histone acetyltransferase ELP3, and increasing levels of the tubulin acetyltransferase MEC17...
May 22, 2018: Blood Advances
https://www.readbyqxmd.com/read/29707171/study-of-respiratory-chain-dysfunction-in-heart-disease
#2
REVIEW
Seyyed Hossein Hassanpour, Mohammad Amin Dehghani, Seyyedeh Zeinab Karami
The relentlessly beating heart has the greatest oxygen consumption of any organ in the body at rest reflecting its huge metabolic turnover and energetic demands. The vast majority of its energy is produced and cycled in form of ATP which stems mainly from oxidative phosphorylation occurring at the respiratory chain in the mitochondria. A part from energy production, the respiratory chain is also the main source of reactive oxygen species and plays a pivotal role in the regulation of oxidative stress. Dysfunction of the respiratory chain is therefore found in most common heart conditions...
2018: Journal of Cardiovascular and Thoracic Research
https://www.readbyqxmd.com/read/29660310/a-modeling-and-simulation-perspective-on-the-mechanism-and-function-of-respiratory-complex-i
#3
REVIEW
Outi Haapanen, Vivek Sharma
Respiratory complex I is a giant redox-driven proton pump, and central to energy production in mitochondria and bacteria. It catalyses the reduction of quinone to quinol, and converts the free energy released into the endergonic proton translocation across the membrane. The proton pumping sets up the proton electrochemical gradient, which propels the synthesis of ATP. Despite the availability of extensive biochemical, biophysical and structural data on complex I, the mechanism of coupling between the electron and proton transfer reactions remain uncertain...
April 13, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29648643/mutations-in-glycyl-trna-synthetase-impair-mitochondrial-metabolism-in-neurons
#4
Veronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, Helen Griffin, Andreas Roos, Marina Bartsakoulia, Boglarka Bansagi, Giulia Ricci, Fanni Palinkas, René P Zahedi, Francesco Bruni, Brian Kaspar, Hanns Lochmüller, Kym M Boycott, Juliane S Müller, Rita Horvath
The nuclear-encoded glycyl-tRNA synthetase gene (GARS) is essential for protein translation in both cytoplasm and mitochondria. In contrast, different genes encode the mitochondrial and cytosolic forms of most other tRNA synthetases. Dominant GARS mutations were described in inherited neuropathies, while recessive mutations cause severe childhood-onset disorders affecting skeletal muscle and heart. The downstream events explaining tissue-specific phenotype-genotype relations remained unclear. We investigated the mitochondrial function of GARS in human cell lines and in the GarsC210R mouse model...
April 10, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29576218/mutations-in-pmpcb-encoding-the-catalytic-subunit-of-the-mitochondrial-presequence-protease-cause-neurodegeneration-in-early-childhood
#5
F-Nora Vögtle, Björn Brändl, Austin Larson, Manuela Pendziwiat, Marisa W Friederich, Susan M White, Alice Basinger, Cansu Kücükköse, Hiltrud Muhle, Johanna A Jähn, Oliver Keminer, Katherine L Helbig, Carolyn F Delto, Lisa Myketin, Dirk Mossmann, Nils Burger, Noriko Miyake, Audrey Burnett, Andreas van Baalen, Mark A Lovell, Naomichi Matsumoto, Maie Walsh, Hung-Chun Yu, Deepali N Shinde, Ulrich Stephani, Johan L K Van Hove, Franz-Josef Müller, Ingo Helbig
Mitochondrial disorders causing neurodegeneration in childhood are genetically heterogeneous, and the underlying genetic etiology remains unknown in many affected individuals. We identified biallelic variants in PMPCB in individuals of four families including one family with two affected siblings with neurodegeneration and cerebellar atrophy. PMPCB encodes the catalytic subunit of the essential mitochondrial processing protease (MPP), which is required for maturation of the majority of mitochondrial precursor proteins...
March 21, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29564809/kynurenic-acid-restores-nrf2-levels-and-prevents-quinolinic-acid-induced-toxicity-in-rat-striatal-slices
#6
Fernanda Silva Ferreira, Helena Biasibetti-Brendler, Paula Pierozan, Felipe Schmitz, Carolina Gessinger Bertó, Caroline Acauan Prezzi, Vanusa Manfredini, Angela T S Wyse
Kynurenic acid (KYNA) and quinolinic acid (QUIN) are metabolites produced in the degradation of tryptophan and have important neurological activities. KYNA/QUIN ratio changes are known to be associated with central nervous system disorders, such Alzheimer, Parkinson, and Huntington diseases. In the present study, we investigate the ability of KYNA in prevent the first events preceding QUIN-induced neurodegeneration in striatal slices of rat. We evaluated the protective effect of KYNA on oxidative status (reactive oxygen species production, antioxidant enzymes activities, lipid peroxidation, nitrite levels, protein and DNA damage, and iNOS immunocontent), mitochondrial function (mitochondrial mass, membrane potential, and respiratory chain enzymes), and Na+ ,K+ -ATPase in striatal slices of rats treated with QUIN...
March 21, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29501406/an-infant-case-of-diffuse-cerebrospinal-lesions-and-cardiomyopathy-caused-by-a-bola3-mutation
#7
Makoto Nishioka, Yuji Inaba, Mitsuo Motobayashi, Yosuke Hara, Ryusuke Numata, Yoshiro Amano, Kunihiko Shingu, Yoichiro Yamamoto, Kei Murayama, Akira Ohtake, Yozo Nakazawa
INTRODUCTION: Mitochondrial dysfunction results in a wide range of organ disorders through diverse genetic abnormalities. We herein present the detailed clinical course of an infant admitted for extensive, rapidly progressing white matter lesions and hypertrophic cardiomyopathy due to a BOLA3 gene mutation. CASE: A 6-month-old girl with no remarkable family or past medical history until 1 month prior presented with developmental regression and feeding impairment...
June 2018: Brain & Development
https://www.readbyqxmd.com/read/29478218/mitochondrial-encephalopathy-first-portuguese-report-of-a-vars2-causative-variant
#8
Sandra Pereira, Mariana Adrião, Mafalda Sampaio, Margarida Ayres Basto, Esmeralda Rodrigues, Laura Vilarinho, Elisa Leão Teles, Isabel Alonso, Miguel Leão
INTRODUCTION: Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing variants in the VARS2 gene, which encodes a mitochondrial aminoacyl-tRNA synthetase. Here we describe a patient with fatal mitochondrial encephalopathy caused by a homozygous VARS2 gene missense variant. CASE REPORT: We report the case of a girl, the first child of non-consanguineous and healthy parents, born from an uneventful term pregnancy, who presented, in the neonatal period, major hypotonia and microcephaly...
February 25, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29461488/blood-mononuclear-cell-mitochondrial-respiratory-chain-complex-iv-activity-is-decreased-in-multiple-sclerosis-patients-effects-of-%C3%AE-interferon-treatment
#9
Iain Hargreaves, Nimesh Mody, John Land, Simon Heales
OBJECTIVES: Evidence of mitochondrial respiratory chain (MRC) dysfunction and oxidative stress has been implicated in the pathophysiology of multiple sclerosis (MS). However, at present, there is no reliable low invasive surrogate available to evaluate mitochondrial function in these patients. In view of the particular sensitivity of MRC complex IV to oxidative stress, the aim of this study was to assess blood mononuclear cell (BMNC) MRC complex IV activity in MS patients and compare these results to age matched controls and MS patients on β-interferon treatment...
February 20, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29416728/crucial-role-of-pro-inflammatory-cytokines-from-respiratory-tract-upon-pm-2-5-exposure-in-causing-the-bmscs-differentiation-in-cells-and-animals
#10
Xiaoting Jin, Ruijun Su, Ruijin Li, Long Cheng, Zhuoyu Li
Fine particulate matter exposure may cause health risk, including cardiovascular diseases and cancer. Bone marrow mesenchymal stem cell (BMSC), a typical model for evaluating pollutant toxicity, has been closely linked to these diseases, due to its characteristics of differentiation. We therefore studied the BMSCs differentiation and its roles in inflammatory activation in the respiratory tract upon PM2.5 exposure using both in vitro and in vivo models. BMSCs differentiation into endothelial-like cells (ELCs) and cancer-associated fibroblasts cells (CAFs) was enhanced in response to conditioned medium from PM2...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29410510/mitochondrial-involvement-in-a-bosch-boonstra-schaaf-optic-atrophy-syndrome-patient-with-a-novel-de-novo-nr2f1-gene-mutation
#11
Elena Martín-Hernández, María Elena Rodríguez-García, Chun-An Chen, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Marcello Bellusci, Christian P Schaaf, Francisco Martínez-Azorín
We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes, and complex IV deficiency of the mitochondrial respiratory chain. Whole-exome sequencing (WES) uncovered a novel heterozygous mutation in the NR2F1 gene (NM_005654:c.286A>G:p.Lys96Glu) that encodes for the COUP transcription factor 1 protein (COUP-TF1)...
April 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29359243/neonatal-mitochondrial-leukoencephalopathy-with-brain-and-spinal-involvement-and-high-lactate-expanding-the-phenotype-of-isca2-gene-mutations
#12
Irene Toldo, Margherita Nosadini, Chiara Boscardin, Giacomo Talenti, Renzo Manara, Eleonora Lamantea, Andrea Legati, Daniele Ghezzi, Giorgio Perilongo, Stefano Sartori
A homoallelic missense founder mutation of the iron-sulfur cluster assembly 2 (ISCA2) gene has been recently reported in six cases affected by an autosomal recessive infantile neurodegenerative mitochondrial disorder. We documented a case of a 2-month-old girl presenting with severe hypotonia and nystagmus, who rapidly deteriorated and died at the age of three months. Increased cerebral spinal fluid level of lactate, documented also at the brain spectroscopy, involvement of the cortex, restricted diffusion of white and gray matter abnormalities, sparing of the corpus callosum and extensive involvement of the spinal cord were observed...
January 23, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29348607/evaluation-of-mitochondrial-bioenergetics-dynamics-endoplasmic-reticulum-mitochondria-crosstalk-and-reactive-oxygen-species-in-fibroblasts-from-patients-with-complex-i-deficiency
#13
Guilhian Leipnitz, Al-Walid Mohsen, Anuradha Karunanidhi, Bianca Seminotti, Vera Y Roginskaya, Desiree M Markantone, Mateus Grings, Stephanie J Mihalik, Peter Wipf, Bennett Van Houten, Jerry Vockley
Mitochondrial complex I (CI) deficiency is the most frequent cause of oxidative phosphorylation (OXPHOS) disorders in humans. In order to benchmark the effects of CI deficiency on mitochondrial bioenergetics and dynamics, respiratory chain (RC) and endoplasmic reticulum (ER)-mitochondria communication, and superoxide production, fibroblasts from patients with mutations in the ND6, NDUFV1 or ACAD9 genes were analyzed. Fatty acid metabolism, basal and maximal respiration, mitochondrial membrane potential, and ATP levels were decreased...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29344903/nuclear-genes-involved-in-mitochondrial-diseases-caused-by-instability-of-mitochondrial-dna
#14
REVIEW
Joanna Rusecka, Magdalena Kaliszewska, Ewa Bartnik, Katarzyna Tońska
Mitochondrial diseases are defined by a respiratory chain dysfunction and in most of the cases manifest as multisystem disorders with predominant expression in muscles and nerves and may be caused by mutations in mitochondrial (mtDNA) or nuclear (nDNA) genomes. Most of the proteins involved in respiratory chain function are nuclear encoded, although 13 subunits of respiratory chain complexes (together with 2 rRNAs and 22 tRNAs necessary for their translation) encoded by mtDNA are essential for cell function...
February 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#15
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29327206/brain-photobiomodulation-therapy-a-narrative-review
#16
REVIEW
Farzad Salehpour, Javad Mahmoudi, Farzin Kamari, Saeed Sadigh-Eteghad, Seyed Hossein Rasta, Michael R Hamblin
Brain photobiomodulation (PBM) therapy using red to near-infrared (NIR) light is an innovative treatment for a wide range of neurological and psychological conditions. Red/NIR light is able to stimulate complex IV of the mitochondrial respiratory chain (cytochrome c oxidase) and increase ATP synthesis. Moreover, light absorption by ion channels results in release of Ca2+ and leads to activation of transcription factors and gene expression. Brain PBM therapy enhances the metabolic capacity of neurons and stimulates anti-inflammatory, anti-apoptotic, and antioxidant responses, as well as neurogenesis and synaptogenesis...
January 11, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29226520/a-novel-homozygous-slc25a1-mutation-with-impaired-mitochondrial-complex-v-possible-phenotypic-expansion
#17
Idan Cohen, Orna Staretz-Chacham, Ohad Wormser, Yonatan Perez, Ann Saada, Rotem Kadir, Ohad S Birk
SLC25A1 mutations are associated with combined D,L-2-hydroxyglutaric aciduria (DL- 2HGA; OMIM #615182), characterized by muscular hypotonia, severe neurodevelopmental dysfunction and intractable seizures. SLC25A1 encodes the mitochondrial citrate carrier (CIC), which mediates efflux of the mitochondrial tricarboxylic acid (TCA) cycle intermediates citrate and isocitrate in exchange for cytosolic malate. Only a single family with an SLC25A1 mutation has been described in which mitochondrial respiratory chain dysfunction was documented, specifically in complex IV...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29138672/testosterone-upregulates-the-expression-of-mitochondrial-nd1-and-nd4-and-alleviates-the-oxidative-damage-to-the-nigrostriatal-dopaminergic-system-in-orchiectomized-rats
#18
Wensheng Yan, Yunxiao Kang, Xiaoming Ji, Shuangcheng Li, Yingkun Li, Guoliang Zhang, Huixian Cui, Geming Shi
Testosterone deficiency, as a potential risk factor for aging and aging-related neurodegenerative disorders, might induce mitochondrial dysfunction and facilitate the declines of the nigrostriatal dopaminergic system by exacerbating the mitochondrial defects and increasing the oxidative damage. Thus, how testosterone levels influence the mitochondrial function in the substantia nigra was investigated in the study. The present studies showed that testosterone deficiency impaired the mitochondrial function in the substantia nigra and induced the oxidative damage to the substantia nigra as well as the deficits in the nigrostriatal dopaminergic system...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29079705/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy
#19
Andrea Legati, Aurelio Reyes, Camilla Ceccatelli Berti, Oliver Stehling, Silvia Marchet, Costanza Lamperti, Alberto Ferrari, Alan J Robinson, Ulrich Mühlenhoff, Roland Lill, Massimo Zeviani, Paola Goffrini, Daniele Ghezzi
BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, this disease has been molecularly defined only in Swedish patients, all homozygous for a deep intronic splicing affecting mutation in ISCU encoding a scaffold protein for the assembly of iron-sulfur (Fe-S) clusters...
December 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29077060/oxidative-stress-mechanistic-insights-into-inherited-mitochondrial-disorders-and-parkinson-s-disease
#20
REVIEW
Mesfer Al Shahrani, Simon Heales, Iain Hargreaves, Michael Orford
Oxidative stress arises when cellular antioxidant defences become overwhelmed by a surplus generation of reactive oxygen species (ROS). Once this occurs, many cellular biomolecules such as DNA, lipids, and proteins become susceptible to free radical-induced oxidative damage, and this may consequently lead to cellular and ultimately tissue and organ dysfunction. Mitochondria, as well as being a source of ROS, are vulnerable to oxidative stress-induced damage with a number of key biomolecules being the target of oxidative damage by free radicals, including membrane phospholipids, respiratory chain complexes, proteins, and mitochondrial DNA (mt DNA)...
October 27, 2017: Journal of Clinical Medicine
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