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Mitochondrial disease complex I

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https://www.readbyqxmd.com/read/28925945/measurement-of-respiratory-chain-enzyme-activity-in-human-renal-biopsy-specimens
#1
Arun Ghose, Christopher M Taylor, Alexander J Howie, Anapurna Chalasani, Iain Hargreaves, David V Milford
Background: Mitochondrial disorders can present as kidney disease in children and be difficult to diagnose. Measurement of mitochondrial function in kidney tissue may help diagnosis. This study was to assess the feasibility of obtaining renal samples and analysing them for respiratory chain enzyme activity. Methods: The subjects were children undergoing a routine diagnostic renal biopsy, in whom a clinical condition of renal inflammation, scarring and primary metabolic disorder was unlikely. A fresh sample of kidney was snap frozen and later assayed for the activities of respiratory chain enzyme complexes I, II/III, and IV using spectrophotometric enzyme assay, and expressed as a ratio of citrate synthase activity...
September 19, 2017: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/28922472/mirna-506-promotes-primary-biliary-cholangitis-like-features-in-cholangiocytes-and-immune-activation
#2
Oihane Erice, Patricia Munoz-Garrido, Javier Vaquero, Maria J Perugorria, Maite G Fernandez-Barrena, Elena Saez, Alvaro Santos-Laso, Ander Arbelaiz, Raul Jimenez-Agüero, Joaquin Fernandez-Irigoyen, Enrique Santamaria, Verónica Torrano, Arkaitz Carracedo, Meenakshisundaram Ananthanarayanan, Marco Marzioni, Jesus Prieto, Ulrich Beuers, Ronald P Oude Elferink, Nicholas F LaRusso, Luis Bujanda, Jose J G Marin, Jesus M Banales
Primary biliary cholangitis (PBC) is a chronic cholestatic liver disease associated with autoimmune phenomena targeting intrahepatic bile duct cells (cholangiocytes). Although PBC etiopathogenesis still remains obscure, development of anti-mitochondrial auto-antibodies against pyruvate dehydrogenase complex-E2 (PDC-E2) is a common feature. MicroRNA (miR) dysregulation occurs in liver and immune cells of PBC patients, but their functional relevance is largely unknown. We previously reported that miR-506 is overexpressed in PBC cholangiocytes and directly targets both Cl(-) /HCO3(-) anion exchanger 2 (AE2) and type III inositol 1,4,5-trisphosphate receptor (InsP3R3), leading to cholestasis...
September 18, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28919908/hepatic-s6k1-partially-regulates-lifespan-of-mice-with-mitochondrial-complex-i-deficiency
#3
Takashi K Ito, Chenhao Lu, Jacob Khan, Quy Nguyen, Heather Z Huang, Dayae Kim, James Phillips, Jo Tan, Yenna Lee, Tuyet Nguyen, Samy Khessib, Natalie Lim, Surapat Mekvanich, Joshua Oh, Victor V Pineda, Weirong Wang, Alessandro Bitto, Jonathan Y An, John F Morton, Mitsutoshi Setou, Warren C Ladiges, Matt Kaeberlein
The inactivation of ribosomal protein S6 kinase 1 (S6K1) recapitulates aspects of caloric restriction and mTORC1 inhibition to achieve prolonged longevity in invertebrate and mouse models. In addition to delaying normative aging, inhibition of mTORC1 extends the shortened lifespan of yeast, fly, and mouse models with severe mitochondrial disease. Here we tested whether disruption of S6K1 can recapitulate the beneficial effects of mTORC1 inhibition in the Ndufs4 knockout (NKO) mouse model of Leigh Syndrome caused by Complex I deficiency...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28917714/mitochondria-in-the-nervous-system-from-health-to-disease-part-i
#4
EDITORIAL
Brian M Polster, Maria Teresa Carrì, Philip M Beart
In Part I of this Special Issue on "Mitochondria in the Nervous System: From Health to Disease", the editors bring together contributions from experts in brain mitochondrial research to provide an up-to-date overview of mitochondrial functioning in physiology and pathology. The issue provides cutting edge reviews on classical areas of mitochondrial biology that include energy substrate utilization, calcium handling, mitochondria-endoplasmic reticulum communication, and cell death regulation. Additional reviews and original research articles touch upon key mitochondrial defects seen across multiple neurodegenerative conditions, including fragmentation, loss of respiratory capacity, calcium overload, elevated reactive oxygen species generation, perturbed NAD(+) metabolism, altered protein acetylation, and compromised mitophagy...
September 13, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28916229/japanese-leigh-syndrome-case-treated-with-epi-743
#5
Takeshi Kouga, Mariko Takagi, Akihiko Miyauchi, Hiroko Shimbo, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Matthew B Klein, Guy Miller, Tomohide Goto, Hitoshi Osaka
BACKGROUND: Leigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies. EPI-743 is a potent cellular oxidative stress protectant and results of clinical trials for mitochondrial diseases are accumulating. CASE: At 5months, a girl presented with the scarce eye movement and diminished muscle tone. She was diagnosed with Leigh encephalopathy from blood and cerebrospinal fluid lactate elevation and MRI findings...
September 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28901394/overexpression-of-atp5b-promotes-cell-proliferation-in-asthma
#6
Jianhong Zuo, Mingsheng Lei, Meilin Wen, Yikun Chen, Zhigang Liu
Asthma is a complicated systemic disease of the airways, which is characterized by variable symptoms, including bronchial hyper‑responsive-ness, inflammation and airflow obstruction. The prevalence of asthma has increased 2‑3‑fold over recent decades in developed countries; however, the molecular mechanism of asthma remains unclear. In the current study, the expression of recombinant protein Dermatophagoides farinaeI (Derf I) was induced by isopropyl β‑D‑1‑thiogalactoside (IPTG) and purified using Ni‑NTA...
August 31, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28888069/a-novel-missense-mutation-in-aifm1-results-in-axonal-polyneuropathy-and-misassembly-of-oxphos-complexes
#7
Bo Hu, Michael Wang, Ryan Castoro, Megan Simmons, Richard Dortch, Robin Yawn, Jun Li
BACKGROUND AND PURPOSE: AIFM1 (apoptosis-inducing factor, mitochondrion-associated-1) in mitochondria has captured a great attention due to its well-described function in apoptosis. Mutations in AIFM1 have resulted in multiple clinical phenotypes, including CMTX4. These syndromes usually involve multiple locations within the nervous system and/or multiple organs. This study describes a novel missense mutation in AIFM1 and its associated peripheral nerve disease. METHODS: Patients with AIFM1 mutation were characterized clinically, electrophysiologically, genetically and by MRI imaging...
September 9, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28884981/ultrastructural-changes-in-skeletal-muscle-of-infants-with-mitochondrial-respiratory-chain-complex-i-defects
#8
Ji Young Mun, Min Kyo Jung, Se Hoon Kim, Soyong Eom, Sung Sik Han, Young Mock Lee
BACKGROUND AND PURPOSE: The pathogenesis of mitochondrial disease (MD) involves the disruption of cellular energy metabolism, which results from defects in the mitochondrial respiratory chain complex (MRC). We investigated whether infants with MRC I defects showed ultrastructural changes in skeletal muscle. METHODS: Twelve infants were enrolled in this study. They were initially evaluated for unexplained neurodegenerative symptoms, myopathies, or other progressive multiorgan involvement, and underwent muscle biopsies when MD was suspected...
September 4, 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28883788/loss-of-mitochondrial-ndufs4-in-striatal-medium-spiny-neurons-mediates-progressive-motor-impairment-in-a-mouse-model-of-leigh-syndrome
#9
Byron Chen, Jessica Hui, Kelsey S Montgomery, Alejandro Gella, Irene Bolea, Elisenda Sanz, Richard D Palmiter, Albert Quintana
Inability of mitochondria to generate energy leads to severe and often fatal myoencephalopathies. Among these, Leigh syndrome (LS) is one of the most common childhood mitochondrial diseases; it is characterized by hypotonia, failure to thrive, respiratory insufficiency and progressive mental and motor dysfunction, leading to early death. Basal ganglia nuclei, including the striatum, are affected in LS patients. However, neither the identity of the affected cell types in the striatum nor their contribution to the disease has been established...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28874733/mitochondrial-permeability-transition-pore-sensitivity-to-opening-and-mechanistic-dependence-on-substrate-availability
#10
Thomas Briston, Malcolm Roberts, Sian Lewis, Ben Powney, James M Staddon, Gyorgy Szabadkai, Michael R Duchen
Mitochondrial Ca(2+) uptake has a key role in cellular Ca(2+) homeostasis. Excessive matrix Ca(2+) concentrations, especially when coincident with oxidative stress, precipitate opening of an inner mitochondrial membrane, high-conductance channel: the mitochondrial permeability transition pore (mPTP). mPTP opening has been implicated as a final cell death pathway in numerous diseases and therefore understanding conditions dictating mPTP opening is crucial for developing targeted therapies. Here, we have investigated the impact of mitochondrial metabolic state on the probability and consequences of mPTP opening...
September 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28873407/photo-affinity-labelling-and-biochemical-analyses-identify-the-target-of-trypanocidal-simplified-natural-product-analogues
#11
Lindsay B Tulloch, Stefanie K Menzies, Andrew L Fraser, Eoin R Gould, Elizabeth F King, Marija K Zacharova, Gordon J Florence, Terry K Smith
Current drugs to treat African sleeping sickness are inadequate and new therapies are urgently required. As part of a medicinal chemistry programme based upon the simplification of acetogenin-type ether scaffolds, we previously reported the promising trypanocidal activity of compound 1, a bis-tetrahydropyran 1,4-triazole (B-THP-T) inhibitor. This study aims to identify the protein target(s) of this class of compound in Trypanosoma brucei to understand its mode of action and aid further structural optimisation...
September 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28867181/insulin-upregulates-grim-19-and-protects-cardiac-mitochondrial-morphology-in-type-1-diabetic-rats-partly-through-pi3k-akt-signaling-pathway
#12
Yong-Guang Li, Zhi-Feng Dong, Kan-Kai Chen, Ya-Ping He, Xiao-Yan Dai, Shuai Li, Jing-Bo Li, Wei Zhu, Meng Wei
Insulin is involved in the development of diabetic heart disease and is important in the activities of mitochondrial complex I. However, the effect of insulin on cardiac mitochondrial nicotinamide adenine dinucleotide dehydrogenase (ubiquinone) 1 subunit of retinoic-interferon-induced mortality 19 (GRIM-19) has not been characterized. The aim of this study was to investigate the effect of insulin on the mitochondrial GRIM-19 in the hearts of rats with streptozotocin (STZ)-induced type 1 diabetes. Protein changes of GRIM-19 were evaluated by western blotting and reverse transcription-quantitative polymerase chain reaction...
August 31, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28862604/-high-resolution-respirometry-in-diagnostic-of-mitochondrial-disorders-caused-by-mitochondrial-complex-i-deficiency
#13
T D Krylova, P G Tsygankova, Yu S Itkis, N L Sheremet, T A Nevinitsyna, S V Mikhaylova, E Yu Zakharova
Complex I (CI) deficiency is one of the most common defects in the OXPHOS system; it represents more than 30% cases of mitochondrial diseases. The group is characterized by clinical and genetic heterogeneity and comprise several nosological forms. The most prevalent phenotypes for CI are LHON and Leigh syndrome. In this study we have analyzed skin fibroblasts from 11 patients with mutations in mtDNA, which cause LHON or Leigh-like phenotypes: m.11778 G>A (n=3), m.3460 A>G (n=2), m.3635 G>A (n=1), m...
July 2017: Biomedit︠s︡inskai︠a︡ Khimii︠a︡
https://www.readbyqxmd.com/read/28860994/pioglitazone-improves-mitochondrial-function-in-the-remnant-kidney-and-protects-against-renal-fibrosis-in-5-6-nephrectomized-rats
#14
Li Sun, Quan Yuan, Tianhua Xu, Li Yao, Jiangmin Feng, Jianfei Ma, Lining Wang, Changlong Lu, Danan Wang
Pioglitazone is a type of peroxisome proliferator-activated receptor γ (PPARγ) agonist and has been demonstrated to be effective in chronic kidney diseases (CKD) treatment. However, the underlying mechanism involved in the renoprotection of pioglitazone has not been fully revealed. In the present study, the renoprotective mechanism of pioglitazone was investigated in 5/6 nephrectomized (Nx) rats and TGF-β1-exposed HK-2 cells. Pioglitazone attenuated renal injury and improved renal function, as examined by 24 h urinary protein, blood urea nitrogen and plasma creatinine in Nx rats...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28846852/adaptation-of-mitochondrial-expression-and-atp-production-in-dedifferentiating-vascular-smooth-muscle-cells
#15
Celena Scheede-Bergdahl, Andreas Bergdahl
Atherosclerosis is one of the leading causes of morbidity and mortality in the Western world. Although the clinical manifestations of this disease are well documented, the etiology and progression remain to be fully understood. Recently, the mitochondria have been implicated in important cellular processes involved in development of atherosclerosis. Despite the link between mitochondria and atherosclerosis, early phase mechanisms of the disease have yet to be elucidated. The aim of this project was to explore the role of mitochondria in vascular smooth muscle (VSMC) dedifferentiation...
August 28, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28837730/a-novel-potentially-causative-variant-of-ndufaf7-revealed-by-mutation-screening-in-a-chinese-family-with-pathologic-myopia
#16
Baojiang Wang, Yongli Liu, Shiguo Chen, Yunmiao Wu, Sheng Lin, Yongheng Duan, Kaifeng Zheng, Linghua Zhang, Xueying Gu, Wenxu Hong, Hao Shao, Xuchun Zeng, Bi Sun, Shan Duan
Purpose: Pathologic myopia described as myopia accompanied by severe deformation of the eye besides excessive elongation of eye, is usually a genetic heterogeneous disorder characterized by extreme, familial, early-onset vision loss. However, the exact pathogenesis of pathologic myopia remains unclear. In this study, we screened a Han Chinese family with pathologic myopia to identify the causative mutation and explore the possible pathogenic mechanism based on evaluation of the biological functions of the mutation...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28816057/mitochondrial-complex-i-reversible-s-nitrosation-improves-bioenergetics-and-is-protective-in-parkinson-s-disease
#17
Chiara Milanese, Victor Tapias, Sylvia Gabriels, Silvia Cerri, Giovanna Levandis, Fabio Blandini, Maria Tresini, Sruti Shiva, John Timothy Greenamyre, Mark T Gladwin, Pier G Mastroberardino
AIMS: This study was designed to explore the neuroprotective potential of inorganic nitrite as a new therapeutic avenue in Parkinson's disease (PD). RESULTS: Administration of inorganic nitrite ameliorates neuropathology in phylogenetically distinct animal models of PD. Beneficial effects are not confined to prophylactic treatment and also occur if nitrite is administered when the pathogenic cascade is already active. Mechanistically, the effect is mediated by both complex I S-nitrosation, which under nitrite administration is favored over formation of other forms of oxidation, and down-stream activation of the antioxidant Nrf2 pathway...
September 21, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28813475/evaluation-of-the-adaptogenic-potential-exerted-by-ginsenosides-rb1-and-rg1-against-oxidative-stress-mediated-neurotoxicity-in-an-in-vitro-neuronal-model
#18
Carlos Fernández-Moriano, Elena González-Burgos, Irene Iglesias, Rafael Lozano, M Pilar Gómez-Serranillos
BACKGROUND: Ginseng (Panax sp.) is a drug with multiple pharmacological actions that has been largely used in traditional medicines for the treatment of many health problems. In the therapy of neurodegenerative disorders, it has been employed due to its capacity to strengthen mental processes by enhancing cognitive performance and psychological function. Current work aimed at evaluating the adaptogenic potential of Rb1 and Rg1 against oxidative-stress mediated degeneration in a model of nervous cells...
2017: PloS One
https://www.readbyqxmd.com/read/28807341/ultrastructural-examination-of-skin-biopsies-may-assist-in-diagnosing-mitochondrial-cytopathy-when-muscle-biopsies-yield-negative-results
#19
John L McAfee, Christine B Warren, Richard A Prayson
Ultrastructural evaluation of skin biopsies has been utilized for diagnosis of mitochondrial disease. This study investigates how frequently skin biopsies reveal mitochondrial abnormalities, correlates skin and muscle biopsy findings, and describes clinical diagnoses rendered following the evaluation. A retrospective review of surgical pathology reports from 1990 to 2015 identified skin biopsies examined by electron microscopy for suspected metabolic disease. A total of 630 biopsies were included from 615 patients...
August 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28803783/impact-of-mutations-within-the-fe-s-cluster-or-the-lipoic-acid-biosynthesis-pathways-on-mitochondrial-protein-expression-profiles-in-fibroblasts-from-patients
#20
E Lebigot, P Gaignard, I Dorboz, A Slama, M Rio, P de Lonlay, B Héron, F Sabourdy, O Boespflug-Tanguy, A Cardoso, F Habarou, C Ottolenghi, P Thérond, C Bouton, M P Golinelli-Cohen, A Boutron
Lipoic acid (LA) is the cofactor of the E2 subunit of mitochondrial ketoacid dehydrogenases and plays a major role in oxidative decarboxylation. De novo LA biosynthesis is dependent on LIAS activity together with LIPT1 and LIPT2. LIAS is an iron‑sulfur (Fe-S) cluster-containing mitochondrial protein, like mitochondrial aconitase (mt-aco) and some subunits of respiratory chain (RC) complexes I, II and III. All of them harbor at least one [Fe-S] cluster and their activity is dependent on the mitochondrial [Fe-S] cluster (ISC) assembly machinery...
August 3, 2017: Molecular Genetics and Metabolism
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