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https://www.readbyqxmd.com/read/28918091/opposed-effects-of-dityrosine-formation-in-soluble-and-aggregated-%C3%AE-synuclein-on-fibril-growth
#1
Michael M Wördehoff, Hamed Shaykhalishahi, Luca Groß, Lothar Gremer, Matthias Stoldt, Alexander K Buell, Dieter Willbold, Wolfgang Hoyer
Parkinson's disease (PD) is the second most common neurodegenerative disease. It is characterized by aggregation of the protein α-synuclein (α-syn) in Lewy bodies, mitochondrial dysfunction, and increased oxidative stress in the substantia nigra. Oxidative stress leads to several modifications of biomolecules including dityrosine (DiY)-crosslinking in proteins, which has recently been detected in α-syn in Lewy bodies from PD patients. Here we report that α-syn is highly susceptible to UV-induced DiY formation...
September 13, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28917714/mitochondria-in-the-nervous-system-from-health-to-disease-part-i
#2
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/28916769/therapeutic-effects-of-the-mitochondrial-ros-redox-modulator-kh176-in-a-mammalian-model-of-leigh-disease
#3
Ria de Haas, Devashish Das, Alejandro Garanto, Herma G Renkema, Rick Greupink, Petra van den Broek, Jeanne Pertijs, Rob W J Collin, Peter Willems, Julien Beyrath, Arend Heerschap, Frans G Russel, Jan A Smeitink
Leigh Disease is a progressive neurometabolic disorder for which a clinical effective treatment is currently still lacking. Here, we report on the therapeutic efficacy of KH176, a new chemical entity derivative of Trolox, in Ndufs4 (-/-) mice, a mammalian model for Leigh Disease. Using in vivo brain diffusion tensor imaging, we show a loss of brain microstructural coherence in Ndufs4 (-/-) mice in the cerebral cortex, external capsule and cerebral peduncle. These findings are in line with the white matter diffusivity changes described in mitochondrial disease patients...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28915355/thiamin-deficiency-on-fetal-brain-development-with-and-without-prenatal-alcohol-exposure
#4
Olena Kloss, Michael Eskin, Miyoung Suh
Adequate thiamin levels are crucial for optimal health, through maintenance of homeostasis and viability of metabolic enzymes, which require thiamine as a co-factor. Thiamin deficiency occurs during pregnancy when dietary intake is inadequate or excessive alcohol is consumed. Thiamin deficiency leads to brain dysfunction due to its involvement in synthesis of myelin and neurotransmitters (eg. acetylcholine, γ-aminobutyric acid, glutamate), and increases oxidative stress by decreasing the production of reducing agents...
September 15, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28914978/model-informed-dose-optimization-of-dichloroacetate-for-the-treatment-of-congenital-lactic-acidosis-in-children
#5
Naveen Mangal, Margaret O James, Peter W Stacpoole, Stephan Schmidt
Dichloroacetate (DCA) is an investigational drug used to treat congenital lactic acidosis and other mitochondrial disorders. Response to DCA therapy in young children may be suboptimal following body weight-based dosing. This is because of autoinhibition of its metabolism, age-dependent changes in pharmacokinetics, and polymorphisms in glutathione transferase zeta 1 (GSTZ1), its primary metabolizing enzyme. Our objective was to predict optimal DCA doses for the treatment of congenital lactic acidosis in children...
September 15, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28914564/neurohumoral-treatment-for-cardiac-disease-in-dystrophinopathies-and-mitochondrial-disorders
#6
Josef Finsterer, Sonam Kothari
No abstract text is available yet for this article.
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28914264/comprehensive-use-of-extended-exome-analysis-improves-diagnostic-yield-in-rare-disease-a-retrospective-survey-in-1-059-cases
#7
Gaber Bergant, Ales Maver, Luca Lovrecic, Goran Čuturilo, Alenka Hodzic, Borut Peterlin
PurposeWe sought to determine the analytical sensitivity of several extended exome variation analysis approaches in terms of their contribution to diagnostic yield and their clinical feasibility.MethodsWe retrospectively analyzed the results of genetic testing in 1,059 distinct cases referred for exome sequencing to our institution. In these, we routinely employed extended exome analysis approaches in addition to basic variant analysis, including (i) copy-number variation (CNV) detection, (ii) nonconsensus splice defect detection, (ii) genomic breakpoint detection, (iv) homozygosity mapping, and (v) mitochondrial variant analysis...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28913435/iba57-mutations-abrogate-iron-sulfur-cluster-assembly-leading-to-cavitating-leukoencephalopathy
#8
Akihiko Ishiyama, Chika Sakai, Yuichi Matsushima, Satoru Noguchi, Satomi Mitsuhashi, Yukari Endo, Yukiko K Hayashi, Yoshiaki Saito, Eiji Nakagawa, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Noriko Sato, Ikuya Nonaka, Yu-Ichi Goto, Ichizo Nishino
OBJECTIVE: To determine the molecular factors contributing to progressive cavitating leukoencephalopathy (PCL) to help resolve the underlying genotype-phenotype associations in the mitochondrial iron-sulfur cluster (ISC) assembly system. METHODS: The subjects were 3 patients from 2 families who showed no inconsistencies in either clinical or brain MRI findings as PCL. We used exome sequencing, immunoblotting, and enzyme activity assays to establish a molecular diagnosis and determine the roles of ISC-associated factors in PCL...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28910366/role-of-mitochondrial-dna-damage-and-dysfunction-in-veterans-with-gulf-war-illness
#9
Yang Chen, Joel N Meyer, Helene Z Hill, Gudrun Lange, Michael R Condon, Jacquelyn C Klein, Duncan Ndirangu, Michael J Falvo
Gulf War Illness (GWI) is a chronic multi-symptom illness not currently diagnosed by standard medical or laboratory test that affects 30% of veterans who served during the 1990-1991 Gulf War. The clinical presentation of GWI is comparable to that of patients with certain mitochondrial disorders-i.e., clinically heterogeneous multisystem symptoms. Therefore, we hypothesized that mitochondrial dysfunction may contribute to both the symptoms of GWI as well as its persistence over time. We recruited 21 cases of GWI (CDC and Kansas criteria) and 7 controls to participate in this study...
2017: PloS One
https://www.readbyqxmd.com/read/28906460/a-critical-assessment-of-the-therapeutic-potential-of-resveratrol-supplements-for-treating-mitochondrial-disorders
#10
REVIEW
Boel De Paepe, Rudy Van Coster
In human cells, mitochondria provide the largest part of cellular energy in the form of adenosine triphosphate generated by the process of oxidative phosphorylation (OXPHOS). Impaired OXPHOS activity leads to a heterogeneous group of inherited diseases for which therapeutic options today remain very limited. Potential innovative strategies aim to ameliorate mitochondrial function by increasing the total mitochondrial load of tissues and/or to scavenge the excess of reactive oxygen species generated by OXPHOS malfunctioning...
September 14, 2017: Nutrients
https://www.readbyqxmd.com/read/28901595/movement-disorders-in-genetically-confirmed-mitochondrial-disease-and-the-putative-role-of-the-cerebellum
#11
Sebastian R Schreglmann, Franz Riederer, Marian Galovic, Christos Ganos, Georg Kägi, Daniel Waldvogel, Zane Jaunmuktane, Andre Schaller, Ute Hidding, Ernst Krasemann, Lars Michels, Christian R Baumann, Kailash Bhatia, Hans H Jung
BACKGROUND: Mitochondrial disease can present as a movement disorder. Data on this entity's epidemiology, genetics, and underlying pathophysiology, however, is scarce. OBJECTIVE: The objective of this study was to describe the clinical, genetic, and volumetric imaging data from patients with mitochondrial disease who presented with movement disorders. METHODS: In this retrospective analysis of all genetically confirmed mitochondrial disease cases from three centers (n = 50), the prevalence and clinical presentation of video-documented movement disorders was assessed...
September 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28900849/neuroprotective-effects-of-kinetin-against-glutamate-induced-oxidative-cytotoxicity-in-ht22-cells-involvement-of-nrf2-and-heme-oxygenase-1
#12
Yunpeng Wei, Dan Liu, Yin Zheng, Chaoshuang Hao, Honglian Li, Wuqing Ouyang
Oxidative stress is considered as one of key factors related to Alzheimer's disease (AD), while kinetin (KT) has been reported to exert anti-oxidative activities as well as neuroprotective effects both in vivo and in vitro. Thus, in this study, the neuroprotective effects of KT against glutamate-induced oxidative toxicity in HT22 cells were investigated. To evaluate the anti-oxidative capabilities of KT itself, several anti-oxidative assays in vitro were conducted. To evaluate the neuroprotective effects of KT, the levels of intracellular reactive oxygen species (ROS) and calcium influx, mitochondrial membrane potential (MMP), and cell death were measured by flow cytometry...
September 12, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28900784/liver-involvement-in-urea-cycle-disorders-a-review-of-the-literature
#13
REVIEW
Adrien Bigot, Michel C Tchan, Benjamin Thoreau, Hélène Blasco, François Maillot
Urea cycle disorders (UCDs) are inborn errors of metabolism of the nitrogen detoxification pathway and encompass six principal enzymatic deficiencies. The aging of UCD patients leads to a better knowledge of the long-term natural history of the condition and to the reporting of previously unnoticed manifestations. Despite historical evidence of liver involvement in UCDs, little attention has been paid to this organ until recently. Hence, we reviewed the available scientific evidence on acute and chronic liver dysfunction and liver carcinogenesis in UCDs and discuss their pathophysiology...
September 12, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28900395/astrocyte-senescence-and-metabolic-changes-in-response-to-hiv-antiretroviral-therapy-drugs
#14
Justin Cohen, Luca D'Agostino, Joel Wilson, Ferit Tuzer, Claudio Torres
With the advent of highly active antiretroviral therapy (HAART) survival rates among patients infected by HIV have increased. However, even though survival has increased HIV-associated neurocognitive disorders (HAND) still persist, suggesting that HAART-drugs may play a role in the neurocognitive impairment observed in HIV-infected patients. Given previous data demonstrating that astrocyte senescence plays a role in neurocognitive disorders such as Alzheimer's disease (AD), we examined the role of HAART on markers of senescence in primary cultures of human astrocytes (HAs)...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28895059/central-nervous-system-penetrating-antiretrovirals-impair-energetic-reserve-in-striatal-nerve-terminals
#15
Kelly L Stauch, Katy Emanuel, Benjamin G Lamberty, Brenda Morsey, Howard S Fox
The use of antiretroviral (ARV) drugs with central nervous system (CNS) penetration effectiveness (CPE) may be useful in the treatment of HIV-associated neurocognitive disorder (HAND) as well as targeting a CNS reservoir in strategies to achieve a functional cure for HIV. However, increased cognitive deficits are linked to at least one of these drugs (efavirenz). As mitochondrial dysfunction has been found with a number of ARVs, and as such can affect neuronal function, the objective of this study was to assess the effects of ARV with high CPE for toxicological profiles on presynaptic nerve terminal energy metabolism...
September 11, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28894505/increased-mitochondrial-mass-and-cytosolic-redox-imbalance-in-hippocampal-astrocytes-of-a-mouse-model-of-rett-syndrome-subcellular-changes-revealed-by-ratiometric-imaging-of-jc-1-and-rogfp1-fluorescence
#16
Dörthe F Bebensee, Karolina Can, Michael Müller
Rett syndrome (RTT) is a neurodevelopmental disorder with mutations in the MECP2 gene. Mostly girls are affected, and an apparently normal development is followed by cognitive impairment, motor dysfunction, epilepsy, and irregular breathing. Various indications suggest mitochondrial dysfunction. In Rett mice, brain ATP levels are reduced, mitochondria are leaking protons, and respiratory complexes are dysregulated. Furthermore, we found in MeCP2-deficient mouse (Mecp2(-/y) ) hippocampus an intensified mitochondrial metabolism and ROS generation...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28894435/neuroactive-steroids-receptor-interactions-and-responses
#17
REVIEW
Kald Beshir Tuem, Tesfay Mehari Atey
Neuroactive steroids (NASs) are naturally occurring steroids, which are synthesized centrally as de novo from cholesterol and are classified as pregnane, androstane, and sulfated neurosteroids (NSs). NASs modulate many processes via interacting with gamma-aminobutyric acid (GABA), N-methyl-d-aspartate, serotonin, voltage-gated calcium channels, voltage-dependent anion channels, α-adrenoreceptors, X-receptors of the liver, transient receptor potential channels, microtubule-associated protein 2, neurotrophin nerve growth factor, and σ1 receptors...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28892826/increased-mortality-and-comorbidity-associated-with-leber-s-hereditary-optic-neuropathy-a-nationwide-cohort-study
#18
Nanna Vestergaard, Thomas Rosenberg, Christian Torp-Pedersen, Henrik Vorum, Carl U Andersen, Kristian Aasbjerg
Purpose: Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease in which optic neuropathy is considered a key feature. Several other manifestations of LHON have been reported; however, only little is known of their incidence and the life expectancy in LHON patients. Methods: This study, based on Danish nationwide health registries, included 141 patients diagnosed with LHON and 297 unaffected family members in the maternal line. The incidence of comorbidities and mortality for patients with LHON and unaffected family members was compared with that in the general population...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28892507/extreme-genome-diversity-in-the-hyper-prevalent-parasitic-eukaryote-blastocystis
#19
Eleni Gentekaki, Bruce A Curtis, Courtney W Stairs, Vladimír Klimeš, Marek Eliáš, Dayana E Salas-Leiva, Emily K Herman, Laura Eme, Maria C Arias, Bernard Henrissat, Frédérique Hilliou, Mary J Klute, Hiroshi Suga, Shehre-Banoo Malik, Arthur W Pightling, Martin Kolisko, Richard A Rachubinski, Alexander Schlacht, Darren M Soanes, Anastasios D Tsaousis, John M Archibald, Steven G Ball, Joel B Dacks, C Graham Clark, Mark van der Giezen, Andrew J Roger
Blastocystis is the most prevalent eukaryotic microbe colonizing the human gut, infecting approximately 1 billion individuals worldwide. Although Blastocystis has been linked to intestinal disorders, its pathogenicity remains controversial because most carriers are asymptomatic. Here, the genome sequence of Blastocystis subtype (ST) 1 is presented and compared to previously published sequences for ST4 and ST7. Despite a conserved core of genes, there is unexpected diversity between these STs in terms of their genome sizes, guanine-cytosine (GC) content, intron numbers, and gene content...
September 11, 2017: PLoS Biology
https://www.readbyqxmd.com/read/28891481/cardiac-manifestations-in-children-with-inborn-errors-of-metabolism
#20
Kyriaki Papadopoulou-Legbelou, Maria Gogou, Athanasios Evangeliou
NEED AND PURPOSE: Cardiac involvement is a part of many inborn errors of metabolism, but has not been systematically studied. This review focuses on studies describing cardiac manifestations of inborn errors of metabolism in childhood. METHODS: Two independent reviewers searched the topic using PubMed database. Studies published within 20 years were considered, without applying any restrictions related to study design. Despite the small number of existing systematic studies on the topic, several case series/reports were identified...
August 15, 2017: Indian Pediatrics
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