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https://www.readbyqxmd.com/read/29040572/biallelic-mutations-in-the-ferredoxin-reductase-gene-cause-novel-mitochondriopathy-with-optic-atrophy
#1
Yanyan Peng, Deepali N Shinde, Alex C Valencia, Jun-Song Mo, Jill Rosenfeld, Megan Truitt Cho, Adam Chamberlin, Zhuo Li, Jie Liu, Baoheng Gui, Rachel Brockhage, Alice Basinger, Brenda Alvarez-Leon, Peter Heydemann, Pilar L Magoulas, Andrea M Lewis, Fernando Scaglia, Solange Gril, Shuk Ching Chong, Matthew Bower, Kristin G Monaghan, Rebecca Willaert, Maria-Renee Plona, Rich Dineen, Francisca Milan, George Hoganson, Zoe Powis, Katherine L Helbig, Jennifer Keller-Ramey, Belinda Harris, Laura C Anderson, Torrian Green, Stacey J Sukoff Rizzo, Julie Kaylor, Jiani Chen, Min-Xin Guan, Elizabeth Sellars, Steven P Sparagana, James B Gibson, Laura G Reinholdt, Sha Tang, Taosheng Huang
Iron-sulfur (Fe-S) clusters are ubiquitous cofactors essential to various cellular processes, including mitochondrial respiration, DNA repair, and iron homeostasis. A steadily increasing number of disorders are being associated with disrupted biogenesis of Fe-S clusters. Here, we conducted whole-exome sequencing of patients with optic atrophy and other neurological signs of mitochondriopathy and identified 17 individuals from 13 unrelated families with recessive mutations in FDXR, encoding the mitochondrial membrane-associated flavoprotein ferrodoxin reductase required for electron transport from NADPH to cytochrome P450...
October 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29035972/hyperammonemia-and-proteostasis-in-cirrhosis
#2
Srinivasan Dasarathy, Maria Hatzoglou
PURPOSE OF REVIEW: Skeletal muscle loss or sarcopenia is a frequent complication of cirrhosis that adversely affects clinical outcomes. As skeletal muscle is the largest store of proteins in the body, proteostasis or protein homeostasis is required for maintenance of muscle mass. This review will focus on disordered skeletal muscle proteostasis in liver disease. RECENT FINDINGS: Increased skeletal muscle uptake of ammonia initiates responses that result in disordered proteostasis including impaired protein synthesis and increased autophagy...
October 14, 2017: Current Opinion in Clinical Nutrition and Metabolic Care
https://www.readbyqxmd.com/read/29035377/nme4-nucleoside-diphosphate-kinase-d-in-cardiolipin-signaling-and-mitophagy
#3
Uwe Schlattner, Malgorzata Tokarska-Schlattner, Richard M Epand, Mathieu Boissan, Marie-Lise Lacombe, Valerian E Kagan
Mitophagy is an emerging paradigm for mitochondrial quality control and cell homeostasis. Dysregulation of mitophagy can lead to human pathologies such as neurodegenerative disorders and contributes to the aging process. Complex protein signaling cascades have been described that regulate mitophagy. We have identified a novel lipid signaling pathway that involves the phospholipid cardiolipin (CL). CL is synthesized and normally confined at the inner mitochondrial membrane. However, upon a mitophagic trigger, ie, collapse of the inner membrane potential, CL is rapidly externalized to the mitochondrial surface with the assistance of the hexameric nucleoside diphosphate kinase D (NME4, NDPK-D, or NM23-H4)...
October 16, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29033892/molecular-diagnosis-of-myoclonus-epilepsy-associated-with-ragged-red-fibers-syndrome-in-the-absence-of-ragged-red-fibers
#4
Sun Yeong Park, Se Hoon Kim, Young-Mock Lee
Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease's natural course and to manage patients more effectively...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29031712/mitochondrial-uncoupling-in-the-melanocortin-system-differentially-regulates-npy-and-pomc-neurons-to-promote-weight-loss
#5
Natalie Jane Michael, Stephanie Elise Simonds, Marco van den Top, Michael Alexander Cowley, David Spanswick
OBJECTIVE: The mitochondrial uncoupling agent 2,4-dinitrophenol (DNP), historically used as a treatment for obesity, is known to cross the blood-brain-barrier, but its effects on central neural circuits controlling body weight are largely unknown. As hypothalamic melanocortin neuropeptide Y/agouti-related protein (NPY/AgRP) and pro-opiomelanocortin (POMC) neurons represent key central regulators of food intake and energy expenditure we investigated the effects of DNP on these neurons, food intake and energy expenditure...
October 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/29031613/pathogenic-mutations-of-the-human-mitochondrial-citrate-carrier-slc25a1-lead-to-impaired-citrate-export-required-for-lipid-dolichol-ubiquinone-and-sterol-synthesis
#6
Homa Majd, Martin S King, Anthony C Smith, Edmund R S Kunji
Missense mutations of the human mitochondrial citrate carrier, encoded by the SLC25A1 gene, lead to an autosomal recessive neurometabolic disorder characterised by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development, often resulting in early death. Here, we have measured the effect of all twelve known pathogenic mutations on the transport activity. The results show that nine mutations abolish transport of citrate completely, whereas the other three reduce the transport rate by more than 70%, indicating that impaired citrate transport is the most likely primary cause of the disease...
October 11, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29031482/toxicologic-transport-properties-of-ncs-382-a-%C3%AE-hydroxybutyrate-ghb-receptor-ligand-in-neuronal-and-epithelial-cells-therapeutic-implications-for-ssadh-deficiency-a-gaba-metabolic-disorder
#7
K R Vogel, G R Ainslie, A McConnell, J-B Roullet, K M Gibson
We report the in vitro assessment of pharmacotoxicity for the high-affinity GHB receptor ligand, NCS-382, using neuronal stem cells derived from mice with a targeted deletion of the aldehyde dehydrogenase 5a1 gene (succinic semialdehyde dehydrogenase(SSADH)-deficient mice). These animals represent a phenocopy of the human disorder of GABA metabolism, SSADH deficiency, that metabolically features accumulation of both GABA and the GABA-analog γ-hydroxybutyric acid in conjunction with a nonspecific neurological phenotype...
October 12, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/29030856/mitochondrial-3-hydroxy-3-methylglutaryl-coa-synthase-deficiency-unique-presenting-laboratory-values-and-a-review-of-biochemical-and-clinical-features
#8
Erin Conboy, Filippo Vairo, Matthew Schultz, Katherine Agre, Ross Ridsdale, David Deyle, Devin Oglesbee, Dimitar Gavrilov, Eric W Klee, Brendan Lanpher
We report an 8-month-old infant with decreased consciousness after a febrile episode and reduced oral intake. He was profoundly acidotic but his lactate was normal. Serum triglycerides were markedly elevated and HDL cholesterol was very low. The urine organic acid analysis during the acute episode revealed a complex pattern of relative hypoketotic dicarboxylic aciduria, suggestive of a potential fatty acid oxidation disorder. MRI showed extensive brain abnormalities concerning for a primary energy deficiency...
October 14, 2017: JIMD Reports
https://www.readbyqxmd.com/read/29030433/dysregulation-of-the-mitochondrial-unfolded-protein-response-induces-non-apoptotic-dopaminergic-neurodegeneration-in-c-elegans-models-of-parkinson-s-disease
#9
Bryan A Martinez, Daniel A Petersen, Anthony L Gaeta, Samuel P Stanley, Guy A Caldwell, Kim A Caldwell
Due to environmental insult or innate genetic deficiency, protein folding environments of the mitochondrial matrix are prone to dysregulation, prompting the activation of a specific organellar stress-response mechanism the mitochondrial unfolded protein response (UPR(MT)). In Caenorhabditis elegans, mitochondrial damage leads to nuclear translocation of the ATFS-1 transcription factor to activate the UPR(MT) After short-term acute stress has been mitigated, the UPR(MT) is eventually suppressed to restore homeostasis to C...
October 13, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29028817/mitochondrial-dysfunction-in-the-gastrointestinal-mucosa-of-children-with-autism-a-blinded-case-control-study
#10
Shannon Rose, Sirish C Bennuri, Katherine F Murray, Timothy Buie, Harland Winter, Richard Eugene Frye
Gastrointestinal (GI) symptoms are prevalent in autism spectrum disorder (ASD) but the pathophysiology is poorly understood. Imbalances in the enteric microbiome have been associated with ASD and can cause GI dysfunction potentially through disruption of mitochondrial function as microbiome metabolites modulate mitochondrial function and mitochondrial dysfunction is highly associated with GI symptoms. In this study, we compared mitochondrial function in rectal and cecum biopsies under the assumption that certain microbiome metabolites, such as butyrate and propionic acid, are more abundant in the cecum as compared to the rectum...
2017: PloS One
https://www.readbyqxmd.com/read/29027929/procyanidin-b2-protects-neurons-from-oxidative-nitrosative-and-excitotoxic-stress
#11
Taylor C Sutcliffe, Aimee N Winter, Noelle C Punessen, Daniel A Linseman
The aberrant generation of oxygen and nitrogen free radicals can cause severe damage to key cellular components, resulting in cell apoptosis. Similarly, excitotoxicity leads to protease activation and mitochondrial dysfunction, which subsequently causes cell death. Each of these factors play critical roles in the neuronal cell death underlying various neurodegenerative diseases. Procyanidin B2 (PB2) is a naturally occurring polyphenolic compound found in high concentrations in cocoa, apples, and grapes. Here, we examine the neuroprotective effects of PB2 in primary cultures of rat cerebellar granule neurons (CGNs) exposed to various stressors...
October 13, 2017: Antioxidants (Basel, Switzerland)
https://www.readbyqxmd.com/read/29027761/oxidative-stress-and-mitochondrial-dynamics-malfunction-are-linked-in-pelizaeus-merzbacher-disease
#12
Montserrat Ruiz, Mélina Bégou, Nathalie Launay, Pablo Ranea-Robles, Patrizia Bianchi, Jone López-Erauskin, Laia Morató, Cristina Guilera, Bérengère Petit, Catherine Vaurs-Barriere, Céline Guéret-Gonthier, Marie-Noëlle Bonnet-Dupeyron, Stéphane Fourcade, Johan Auwerx, Odile Boespflug-Tanguy, Aurora Pujol
Pelizaeus-Merzbacher disease (PMD) is a fatal hypomyelinating disorder characterized by early impairment of motor development, nystagmus, choreoathetotic movements, ataxia and progressive spasticity. PMD is caused by variations in the proteolipid protein gene PLP1, which encodes the two major myelin proteins of the central nervous system, PLP and its spliced isoform DM20, in oligodendrocytes. Large duplications including the entire PLP1 gene are the most frequent causative mutation leading to the classical form of PMD...
October 13, 2017: Brain Pathology
https://www.readbyqxmd.com/read/29027371/differential-proteomic-analysis-of-dimethylnitrosamine-dmn-induced-liver-fibrosis
#13
Xiujie Liu, Rongji Dai, Ming Ke, Imran Suheryani, Weiwei Meng, Yulin Deng
Liver fibrosis is a common pathological feature of many chronic liver diseases. To characterize the entire panorama of proteome changes in DMN-induced liver fibrosis, iTRAQ-based differential proteomic analysis was performed with DMN-induced liver fibrosis rats. A total of 4155 confidently identified proteins were found, with 365 proteins showing significant changes (fold changes of >1.5 or < 0.67, P < 0.05). In metabolic activation, proteins assigned to drug metabolism enzymes (e.g., CYP2D1) changed, suggesting that the liver protection mechanism was activated to relieve DMN toxicity...
October 13, 2017: Proteomics
https://www.readbyqxmd.com/read/29026367/mitochondrial-encephalomyopathy-with-lactic-acidosis-and-stroke-like-episodes-melas-syndrome
#14
Caitlin Henry, Neema Patel, William Shaffer, Lillian Murphy, Joe Park, Bradley Spieler
BACKGROUND: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder that results in waxing and waning nervous system and muscle dysfunction. MELAS syndrome may overlap with other neurologic disorders but shows distinctive imaging features. CASE REPORT: We present the case of a 28-year-old female with atypical stroke-like symptoms, a strong family history of stroke-like symptoms, and a relapsing-remitting course for several years...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/29026001/understanding-a-role-for-hypoxia-in-lesion-formation-and-location-in-the-deep-and-periventricular-white-matter-in-small-vessel-disease-and-multiple-sclerosis
#15
REVIEW
Santiago Martinez Sosa, Kenneth J Smith
The deep and periventricular white matter is preferentially affected in several neurological disorders, including cerebral small vessel disease (SVD) and multiple sclerosis (MS), suggesting that common pathogenic mechanisms may be involved in this injury. Here we consider the potential pathogenic role of tissue hypoxia in lesion development, arising partly from the vascular anatomy of the affected white matter. Specifically, these regions are supplied by a sparse vasculature fed by long, narrow end arteries/arterioles that are vulnerable to oxygen desaturation if perfusion is reduced (as in SVD, MS and diabetes) or if the surrounding tissue is hypoxic (as in MS, at least)...
October 15, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/29022502/pathophysiological-role-of-mitochondrial-potassium-channels-and-their-modulation-by-drugs
#16
Valentina Citi, Vincenzo Calderone, Alma Martelli, Maria Cristina Breschi, Lara Testai
Mitochondria play a central role in ATP-generating processes. Indeed, in mammalian tissues, up to 90% of ATP is generated by mitochondria through the process of oxidative phosphorylation; furthermore, mitochondria are involved in multiple signal transduction pathways. A rapidly expanding body of literature has confirmed that mitochondria play a pivotal role in apoptosis, cardio- and neuro-protection, and various neurodegenerative disorders, ranging from Parkinson's to Alzheimer's disease. It is evident that mitochondria are also the targets of multiple drugs; some of these are exactly designed to influence mitochondrial function, while others have primary targets in other cellular locations but may interact with mitochondria because of the presence of numerous targets on this organelle...
October 12, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29022237/dysfunction-of-membrane-trafficking-leads-to-ischemia-reperfusion-injury-after-transient-cerebral-ischemia
#17
REVIEW
Dong Yuan, Chunli Liu, Bingren Hu
Neurons require an extraordinarily high level of membrane trafficking activities because of enriched axonal terminals and dendritic branches. For that reason, defects in the membrane trafficking pathway are a hallmark of most, and may be all, neurodegenerative disorders. A major cellular membrane trafficking pathway is the Golgi apparatus (Golgi hereafter)-late endosome-lysosome axis for supplying lysosomal enzymes. This pathway is regulated by N-ethylmaleimide-sensitive factor (NSF) ATPase. This review article is to discuss a novel hypothesis that brain ischemia inactivates NSF ATPase, resulting in a cascade of events of disruption of the Golgi-endosome-lysosome pathway, release of cathepsin B (CTSB), and induction of mitochondrial outer membrane permeabilization (MOMP) during the postischemic phase...
October 11, 2017: Translational Stroke Research
https://www.readbyqxmd.com/read/29021520/hdac6-inhibition-reverses-axonal-transport-defects-in-motor-neurons-derived-from-fus-als-patients
#18
Wenting Guo, Maximilian Naujock, Laura Fumagalli, Tijs Vandoorne, Pieter Baatsen, Ruben Boon, Laura Ordovás, Abdulsamie Patel, Marc Welters, Thomas Vanwelden, Natasja Geens, Tine Tricot, Veronick Benoy, Jolien Steyaert, Cynthia Lefebvre-Omar, Werend Boesmans, Matthew Jarpe, Jared Sterneckert, Florian Wegner, Susanne Petri, Delphine Bohl, Pieter Vanden Berghe, Wim Robberecht, Philip Van Damme, Catherine Verfaillie, Ludo Van Den Bosch
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder due to selective loss of motor neurons (MNs). Mutations in the fused in sarcoma (FUS) gene can cause both juvenile and late onset ALS. We generated and characterized induced pluripotent stem cells (iPSCs) from ALS patients with different FUS mutations, as well as from healthy controls. Patient-derived MNs show typical cytoplasmic FUS pathology, hypoexcitability, as well as progressive axonal transport defects. Axonal transport defects are rescued by CRISPR/Cas9-mediated genetic correction of the FUS mutation in patient-derived iPSCs...
October 11, 2017: Nature Communications
https://www.readbyqxmd.com/read/29020013/in-utero-and-lactational-exposure-to-low-doses-of-the-pyrethroid-insecticide-cypermethrin-leads-to-neurodevelopmental-defects-in-male-mice-an-ethological-and-transcriptomic-study
#19
Anthony Laugeray, Ameziane Herzine, Olivier Perche, Olivier Richard, Céline Montecot-Dubourg, Arnaud Menuet, Séverine Mazaud-Guittot, Laurianne Lesné, Bernard Jegou, Stéphane Mortaud
Accumulating evidence suggests that developmental exposure to environmental chemicals may modify the course of brain development, ultimately leading to neuropsychiatric / neurodegenerative disorders later in life. In the present study, we assessed the impact of one of the most frequently used pesticides in both residential and agricultural applications - the synthetic pyrethroid cypermethrin (CYP) - on developmental neurotoxicity (DNT). Female mice were perinatally exposed to low doses of CYP (5 and 20 mg/kg body weight) from gestation to postnatal day 15...
2017: PloS One
https://www.readbyqxmd.com/read/29019088/involvement-of-mitochondrial-pathway-in-environmental-metal-pollutant-lead-induced-apoptosis-of-chicken-liver-perspectives-from-oxidative-stress-and-energy-metabolism
#20
Qianru Chi, Tianqi Liu, Zhepeng Sun, Siran Tan, Shiping Li, Shu Li
This study aimed to investigate the possible mechanisms of environmental metal pollutant lead (Pb)-induced apoptosis in chicken. Forty 8-day-old healthy chickens were randomly assigned to two groups (n = 20/group) after raising standard commercial diet and drinking water for 1 week: including control group and Pb group ((CH3COO)2Pb 350 mg/L of drinking water); the chickens were given euthanasia and collected livers at 90 days. A significant increase of apoptosis rate were found in Pb group and Pb induced obvious ultrastructural changes of chicken liver...
October 10, 2017: Environmental Science and Pollution Research International
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