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Mitochondrial disease complex I

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https://www.readbyqxmd.com/read/28645153/defective-mitochondrial-rna-processing-due-to-pnpt1-variants-causes-leigh-syndrome
#1
Sanna Matilainen, Christopher J Carroll, Uwe Richter, Liliya Euro, Max Pohjanpelto, Anders Paetau, Pirjo Isohanni, Anu Suomalainen
Leigh syndrome is a severe infantile encephalopathy with an exceptionally variable genetic background. We studied the exome of a child manifesting with Leigh syndrome at one month of age and progressing to death by the age of 2.4 years, and identified novel compound heterozygous variants in PNPT1, encoding the polynucleotide phosphorylase (PNPase). Expression of the wild type PNPT1 in the subject's myoblasts functionally complemented the defects, and the pathogenicity was further supported by structural predictions and protein and RNA analyses...
June 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28633139/mitochondrial-metabolism-in-a-large-animal-model-of-huntington-disease-the-hunt-for-biomarkers-in-the-spermatozoa-of-presymptomatic-minipigs
#2
Jana Krizova, Hana Stufkova, Marie Rodinova, Monika Macakova, Bozena Bohuslavova, Daniela Vidinska, Jiri Klima, Zdenka Ellederova, Antonin Pavlok, David S Howland, Jiri Zeman, Jan Motlik, Hana Hansikova
BACKGROUND: Huntington disease (HD) is a fatal neurodegenerative disorder involving reduced muscle coordination, mental and behavioral changes, and testicular degeneration. In order to further clarify the decreased fertility and penetration ability of the spermatozoa of transgenic HD minipig boars (TgHD), we applied a set of mitochondrial metabolism (MM) parameter measurements to this promising biological material, which can be collected noninvasively in longitudinal studies. OBJECTIVE: We aimed to optimize methods for MM measurements in spermatozoa and to establish possible biomarkers of HD in TgHD spermatozoa expressing the N-terminal part of mutated human huntingtin...
June 21, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28623709/the-mechanism-of-neuroprotective-action-of-natural-compounds
#3
REVIEW
Agnieszka Wąsik, Lucyna Antkiewicz-Michaluk
Disturbance of cerebral redox homeostasis is the primary cause of human neurodegenerative disorders, such as Parkinson's disease or Alzheimer's disease. Well known experimental research demonstrates that oxidative stress is a main cause of cell death. A high concentration of reactive oxygen and nitrogen species leads to damage of a lot of proteins, lipids and also DNA. Synthetic compounds used for the treatment in the neurodegenerative diseases failed to meet the hopes they had raised and often exhibit a number of side effects...
April 30, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/28620826/individual-amino-acid-supplementation-can-improve-energy-metabolism-and-decrease-ros-production-in-neuronal-cells-overexpressing-alpha-synuclein
#4
Vedad Delic, Jeddidiah W D Griffin, Sandra Zivkovic, Yumeng Zhang, Tam-Anh Phan, Henry Gong, Dale Chaput, Christian Reynes, Vinh B Dinh, Josean Cruz, Eni Cvitkovic, Devon Placides, Ernide Frederic, Hamed Mirzaei, Stanley M Stevens, Umesh Jinwal, Daniel C Lee, Patrick C Bradshaw
Parkinson's disease (PD) is a neurodegenerative disorder characterized by alpha-synuclein accumulation and loss of dopaminergic neurons in the substantia nigra (SN) region of the brain. Increased levels of alpha-synuclein have been shown to result in loss of mitochondrial electron transport chain complex I activity leading to increased reactive oxygen species (ROS) production. WT alpha-synuclein was stably overexpressed in human BE(2)-M17 neuroblastoma cells resulting in increased levels of an alpha-synuclein multimer, but no increase in alpha-synuclein monomer levels...
June 15, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28605780/uremia-induces-adipose-tissue-inflammation-and-muscle-mitochondrial-dysfunction
#5
Maria P Martinez Cantarin, Diana Whitaker-Menezes, Zhao Lin, Bonita Falkner
Background.: End-stage renal disease (ESRD) is associated with inflammation and increased reactive oxygen species (ROS). Inflammation and oxidative stress are associated with several complications of ESRD. The aim of this study was to determine histological characteristics of adipose tissue and muscle mitochondrial function in uremia and its relationship with inflammation. Methods.: ESRD patients ( n  = 18) and controls ( n  = 6) were enrolled for studies of adipose and muscle tissue by immunohistochemistry and western blot...
June 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28605655/aluminum-chloride-caused-liver-dysfunction-and-mitochondrial-energy-metabolism-disorder-in-rat
#6
Feibo Xu, Yanfen Liu, Hansong Zhao, Kaiyuan Yu, Miao Song, Yanzhu Zhu, Yanfei Li
Aluminum (Al) is known to exert hepatotoxicity. However, the mechanisms mostly are unclear. Liver is a metabolism organ that maintains the energy level and structural stability of body, mitochondria are the main sites of energy metabolism, thus, we hypothesized that mitochondrial energy metabolism disorder contributes to liver dysfunction in aluminum chloride (AlCl3) treatment rat. To verify the hypothesis, forty male Wistar rats were randomly allocated and orally exposed to 0, 64mg/kg, 128mg/kg and 256mg/kg body weight AlCl3 in drinking water for 120days, respectively...
April 20, 2017: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/28594869/compound-heterozygous-mutations-in-glycyl-trna-synthetase-gars-cause-mitochondrial-respiratory-chain-dysfunction
#7
Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis...
2017: PloS One
https://www.readbyqxmd.com/read/28593021/tissue-and-condition-specific-isoforms-of-mammalian-cytochrome-c-oxidase-subunits-from-function-to-human-disease
#8
REVIEW
Christopher A Sinkler, Hasini Kalpage, Joseph Shay, Icksoo Lee, Moh H Malek, Lawrence I Grossman, Maik Hüttemann
Cytochrome c oxidase (COX) is the terminal enzyme of the electron transport chain and catalyzes the transfer of electrons from cytochrome c to oxygen. COX consists of 14 subunits, three and eleven encoded, respectively, by the mitochondrial and nuclear DNA. Tissue- and condition-specific isoforms have only been reported for COX but not for the other oxidative phosphorylation complexes, suggesting a fundamental requirement to fine-tune and regulate the essentially irreversible reaction catalyzed by COX. This article briefly discusses the assembly of COX in mammals and then reviews the functions of the six nuclear-encoded COX subunits that are expressed as isoforms in specialized tissues including those of the liver, heart and skeletal muscle, lung, and testes: COX IV-1, COX IV-2, NDUFA4, NDUFA4L2, COX VIaL, COX VIaH, COX VIb-1, COX VIb-2, COX VIIaH, COX VIIaL, COX VIIaR, COX VIIIH/L, and COX VIII-3...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28592294/exercise-in-claudicants-increase-or-decrease-walking-ability-and-the-response-relates-to-mitochondrial-function
#9
Michel van Schaardenburgh, Martin Wohlwend, Øivind Rognmo, Erney J R Mattsson
BACKGROUND: Exercise of patients with intermittent claudication improves walking performance. Exercise does not usually increase blood flow, but seems to increase muscle mitochondrial enzyme activities. Although exercise is beneficial in most patients, it might be harmful in some. The mitochondrial response to exercise might therefore differ between patients. Our hypothesis was that changes in walking performance relate to changes in mitochondrial function after 8 weeks of exercise. At a subgroup level, negative responders decrease and positive responders increase mitochondrial capacity...
June 7, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28588260/remodeling-pathway-control-of-mitochondrial-respiratory-capacity-by-temperature-in-mouse-heart-electron-flow-through-the-q-junction-in-permeabilized-fibers
#10
Hélène Lemieux, Pierre U Blier, Erich Gnaiger
Fuel substrate supply and oxidative phosphorylation are key determinants of muscle performance. Numerous studies of mammalian mitochondria are carried out (i) with substrate supply that limits electron flow, and (ii) far below physiological temperature. To analyze potentially implicated biases, we studied mitochondrial respiratory control in permeabilized mouse myocardial fibers using high-resolution respirometry. The capacity of oxidative phosphorylation at 37 °C was nearly two-fold higher when fueled by physiological substrate combinations reconstituting tricarboxylic acid cycle function, compared with electron flow measured separately through NADH to Complex I or succinate to Complex II...
June 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28587136/use-of-the-ketogenic-diet-to-treat-intractable-epilepsy-in-mitochondrial-disorders
#11
REVIEW
Eleni Paleologou, Naila Ismayilova, Maria Kinali
Mitochondrial disorders are a clinically heterogeneous group of disorders that are caused by defects in the respiratory chain, the metabolic pathway of the adenosine tri-phosphate (ATP) production system. Epilepsy is a common and important feature of these disorders and its management can be challenging. Epileptic seizures in the context of mitochondrial disease are usually treated with conventional anti-epileptic medication, apart from valproic acid. However, in accordance with the treatment of intractable epilepsy where there are limited treatment options, the ketogenic diet (KD) has been considered as an alternative therapy...
May 26, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28583715/novel-insights-into-the-antioxidant-role-of-tauroursodeoxycholic-acid-in-experimental-models-of-parkinson-s-disease
#12
Alexandra I Rosa, Inês Fonseca, Maria João Nunes, Sara Moreira, Elsa Rodrigues, Andreia Neves Carvalho, Cecília M P Rodrigues, Maria João Gama, Margarida Castro-Caldas
Impaired mitochondrial function and generation of reactive oxygen species are deeply implicated in Parkinson's disease progression. Indeed, mutations in genes that affect mitochondrial function account for most of the familial cases of the disease, and postmortem studies in sporadic PD patients brains revealed increased signs of oxidative stress. Moreover, exposure to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), a mitochondrial complex I inhibitor, leads to clinical symptoms similar to sporadic PD. The bile acid tauroursodeoxycholic acid (TUDCA) is an anti-apoptotic molecule shown to protect against MPTP-induced neurodegeneration in mice, but the mechanisms involved are still incompletely identified...
June 2, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28582861/post-translational-oxidative-modifications-of-mitochondrial-complex-i-nadh-ubiquinone-oxidoreductase-implications-for-pathogenesis-and-therapeutics-in-human-diseases
#13
M M Srinivas Bharath
Mitochondrial complex I (NADH: ubiquinone oxidoreductase; CI) is central to the electron transfer chain (ETC), oxidative phosphorylation, and ATP production in eukaryotes. CI is a multi-subunit complex with a complicated yet organized structure that optimally connects electron transfer with proton translocation and forms higher-order supercomplexes with other ETC complexes. Efforts to understand the molecular genetics, expression profile of subunits, and structure-function relationship of CI have increased over the years due to the direct role of the complex in human diseases...
May 30, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28578014/carbon-monoxide-protects-against-hepatic-steatosis-in-mice-by-inducing-sestrin-2-via-the-perk-eif2%C3%AE-atf4-pathway
#14
Hyo Jeong Kim, Yeonsoo Joe, Seul-Ki Kim, Se-Ung Park, Jeongmin Park, Yingqing Chen, Jin Kim, Jinhyun Ryu, Gyeong Jae Cho, Young-Joon Surh, Stefan W Ryter, Uh-Hyun Kim, Hun-Taeg Chung
Nonalcoholic fatty liver disease (NAFLD), the hepatic manifestation of the metabolic syndrome, has emerged as one of the most common causes of chronic liver disease in developed countries over the last decade. NAFLD comprises a spectrum of pathological hepatic changes, including steatosis, steatohepatitis, advanced fibrosis, and cirrhosis. Autophagy, a homeostatic process for protein and organelle turnover, is decreased in the liver during the development of NAFLD. Previously, we have shown that carbon monoxide (CO), a reaction product of heme oxygenase (HO) activity, can confer protection in NAFLD, though the molecular mechanisms remain unclear...
May 31, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28577870/mitochondria-as-the-target-for-the-modulatory-effect-of-curcumin-in-oxaliplatin-induced-toxicity-in-isolated-rat-liver-mitochondria
#15
Mohammad Waseem, Suhel Parvez, Heena Tabassum
BACKGROUND AND AIMS: To explore hepatoprotective action of curcumin (CMN, a bioflavonoid) on oxaliplatin (Oxa)-triggered mitochondrial oxidative stress and respiratory chain complexes in liver of rats. Oxa is a ubiquitously utilized platinum-based chemotherapeutic agent commonly used for the treatment of colorectal cancer. Mitochondria have recently emerged as targets for anticancer drugs in several kinds of toxicity including hepatotoxicity that can lead to neoplastic disease. There is a dearth of evidence involving the role of mitochondria in mediating Oxa-evoked hepatotoxicity and its underlying mechanism is still debatable...
January 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28573457/oxidative-damage-of-mitochondrial-respiratory-chain-in-different-organs-of-a-rat-model-of-diet-induced-obesity
#16
Hai-Tao Yu, Xiao-Yi Fu, Bing Liang, Shuang Wang, Jian-Kang Liu, Shu-Ran Wang, Zhi-Hui Feng
PURPOSE: Mitochondrial dysfunction plays an important role in the development of obesity and obesity-associated metabolic diseases. METHODS: In this study, we dynamically observed the characteristics of mitochondrial damage in a rat model of diet-induced obesity (DIO). From the 2nd to the 10th week, animals were killed every 2 weeks and the heart, liver, kidney, and testicular tissues were harvested. Mitochondria were isolated and the activities of respiratory chain complexes I, II, III, and IV as well as the 8-Hydroxy-2-deoxy Guanosine content were determined...
June 1, 2017: European Journal of Nutrition
https://www.readbyqxmd.com/read/28573291/mechanisms-of-iron-and-copper-frataxin-interactions
#17
T H L Han, J M Camadro, R Santos, E Lesuisse, J M El Hage Chahine, N T Ha-Duong
Frataxin is a mitochondrial protein whose deficiency is the cause of Friedreich's ataxia, a hereditary neurodegenerative disease. This protein plays a role in iron-sulfur cluster biosynthesis, protection against oxidative stress and iron metabolism. In an attempt to provide a better understanding of the role played by metals in its metabolic functions, the mechanisms of mitochondrial metal binding to frataxin in vitro have been investigated. A purified recombinant yeast frataxin homolog Yfh1 binds two Cu(ii) ions with a Kd1(Cu(II)) of 1...
June 2, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28562048/lychee-litchi-chinensis-sonn-pulp-phenolic-extract-confers-a-protective-activity-against-alcoholic-liver-disease-in-mice-by-alleviating-mitochondrial-dysfunction
#18
Juan Xiao, Ruifen Zhang, Fei Huang, Lei Liu, Yuanyuan Deng, Yongxuan Ma, Zhencheng Wei, Xiaojun Tang, Yan Zhang, Mingwei Zhang
Mitochondria play an important role in the initiation and development of alcoholic liver disease (ALD). Our previous studies found lychee pulp phenolic extract (LPPE) exerted protective effect against ALD partly by inhibiting fatty acid β-oxidation, and phenolic-rich lychee pulp extract improved restraint stress-induced liver injury by inhibiting mitochondrial dysfunction. The aim of this study was to investigate whether LPPE exerted protective effect against ALD via modulating mitochondrial function. The mice were treated with an ethanol-containing liquid diet alone or in combination with LPPE for 8 weeks...
June 21, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28553224/docking-studies-and-biological-evaluation-of-a-potential-%C3%AE-secretase-inhibitor-of-3-hydroxyhericenone-f-from-hericium-erinaceus
#19
Chen Diling, Yong Tianqiao, Yang Jian, Zheng Chaoqun, Shuai Ou, Xie Yizhen
Alzheimer's disease (AD) is the most common neurodegenerative disorder, affecting approximately more than 5% of the population worldwide over the age 65, annually. The incidence of AD is expected to be higher in the next 10 years. AD patients experience poor prognosis and as a consequence new drugs and therapeutic strategies are required in order to improve the clinical responses and outcomes of AD. The purpose of the present study was to screen a certain number of potential compounds from herbal sources and investigate their corresponding mode of action...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28551803/insulin-resistance-and-mitochondrial-dysfunction
#20
Alba Gonzalez-Franquesa, Mary-Elizabeth Patti
Insulin resistance precedes and predicts the onset of type 2 diabetes (T2D) in susceptible humans, underscoring its important role in the complex pathogenesis of this disease. Insulin resistance contributes to multiple tissue defects characteristic of T2D, including reduced insulin-stimulated glucose uptake in insulin-sensitive tissues, increased hepatic glucose production, increased lipolysis in adipose tissue, and altered insulin secretion. Studies of individuals with insulin resistance, both with established T2D and high-risk individuals, have consistently demonstrated a diverse array of defects in mitochondrial function (i...
2017: Advances in Experimental Medicine and Biology
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