Comment on APLAR Grand Round: Phenotypes of single mtDNA deletions may unequivocally suggest mitochondrial disease

International Journal of Rheumatic Diseases, Volume 22, Issue 6, Page 1165-1166, June 2019.
Source: International Journal of Rheumatic Diseases - Category: Rheumatology Authors: Tags: CORRESPONDENCE Source Type: research

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CONCLUSION: Advanced molecular diagnosis, structural analysis and clinical correlations reveal that MADD patients harboring a severe prognosis mutation in one allele can actually revert to a milder phenotype by complementation with a milder mutation in the other allele. However, such patients are nevertheless in a precarious metabolic balance which can revert to severe fatal outcomes during catabolic stress or secondary pathology, thus requiring strict clinical follow-up. PMID: 31418342 [PubMed - in process]
Source: Current Molecular Medicine - Category: Molecular Biology Authors: Tags: Curr Mol Med Source Type: research
In conclusion, our results demonstrated that compression induced apoptosis in primary cultured cortical neurons, which was associated with ROS mediated ER stress and mitochondrial dysfunction. Pharmacological compounds or agents targeting mitochondrial dysfunction and ER stress associated oxidative stress might be ideal candidates for the treatment of IH-related neurological diseases.
Source: Neuroscience - Category: Neuroscience Source Type: research
Publication date: Available online 16 August 2019Source: MitochondrionAuthor(s): Arumugam Paramasivam, Challa Venkatapathi, Gampa Sandeep, Angamuthu K. Meena, Megha S. Uppin, Swati Mohapatra, Robert D.S. Pitceathly, Kumarasamy ThangarajAbstractMutations in the mitochondrial DNA maintenance gene POLG (DNA Polymerase Gamma, Catalytic Subunit), encoding mitochondrial DNA polymerase gamma (pol γ), are associated with an extremely broad phenotypic spectrum. We identified homozygous POLG c.1879C>T; p.R627W mutations in two siblings from a consanguineous South Asian family following targeted resequencing of 75 nuclear-en...
Source: Mitochondrion - Category: Biochemistry Source Type: research
ConclusionGNMT participates in the regulation of metabolic pathways and mitochondrial functionality through the regulation of Complex II activity in the electron transport chain. In NAFLD, GNMT is repressed by miR-873-5p and its targeting arises as a valuable therapeutic option for treatment.Graphical abstract
Source: Molecular Metabolism - Category: Endocrinology Source Type: research
AbstractBoth arsenic (As) and obesity are associated with brain disorders. However, long term studies to evaluate their concomitant adverse effects on the brain functions are lacking. Present study was conducted to evaluate the long term co-exposure of As and high fat diet (HFD) on memory and brain mitochondrial function in mice. Male mice were randomly divided into 7 groups fed with HFD or ordinary diet (OD) and instantaneously exposed to As (25 or 50  ppm) in drinking water for, 4, 8, 12, 16 or 20 weeks. Step-down passive avoidance method was used for memory assessment and post exposure various parameters inclu...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
In this study, the possible beneficial effect of safranal on cognitive deficits was evaluated in a rat model of AD induced by intrahippocampal amyloid beta (Aβ1 –40). Safranal was daily givenp.o. (0.025, 0.1, and 0.2  ml/kg) post-surgery for 1 week and finally learning and memory were evaluated in addition to assessment of the involvement of oxidative stress, inflammation, and apoptosis. Findings showed that safranal treatment of amyloid β-microinjected rats dose-dependently improved cognition in Y-maze, nove l-object discrimination, passive avoidance, and 8-arm radial arm maze tasks. Besides, saf...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
In this study, our aim was to evaluate neuroprotective effect rendered by edaravone, a potent free radical scavenger in combination with caffeine, an effective inhibitor of adenosine A2A receptor as well as a proven antioxidant. Here we demonstrate that a three-week treatment with edaravone-caffeine combination was able to significantly diminish rotenone induced oxidative damage at the cellular level as well as muscle weakness and cognitive impairment generally associated with Parkinson’s disease. This effect is attributable to edaravone’s capability of scavenging the perxoynitrite free radical. Herein, we have...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
Contributors : Evandro F Fang ; Yujun Hou ; Martin B Jensen ; Henok Kassahun ; Marya Morevati ; Jesse S Kerr ; David Figueroa ; Beimeng Yang ; Ho-Joon Lee ; Hisaya Kato ; Tanima SenGupta ; Tyler G Demarest ; Jong-Hyuk Lee ; Domenica Caponio ; Tomasz Kulikowicz ; Aswin Mangerich ; Deborah L Croteau ; Yoshiro Maezawa ; Costas A Lyssiotis ; Mark P Mattson ; Heinrich Jasper ; Hilde Nilsen ; Vilhelm A BohrSeries Type : Expression profiling by arrayOrganism : Caenorhabditis elegansMetabolic dysfunction is a primary feature of the premature aging Werner syndrome (WS), a heritable human disease caused by mutations in the gene enco...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Caenorhabditis elegans Source Type: research
ConclusionPD is a multifactorial disorder involving interplay of aging, genetics and environmental factors. This has implications on the development of appropriate animal models of PD which take all these factors into account. Common converging pathways likely include mitochondrial dysfunction, impaired autophagy, oxidative stress and neuroinflammation, which are associated with the accumulation and spread of misfolded α-synuclein and neurodegeneration. Understanding the mechanisms involved in the initiation and progression of PD may lead to potential therapeutic targets to prevent PD or modify its course.
Source: Translational Neurodegeneration - Category: Neurology Source Type: research
Mitochondrial lipid overload in skeletal muscle contributes to insulin resistance, and strategies limiting this lipid pressure improve glucose homeostasis; however, comprehensive cellular adaptations that occur in response to such an intervention have not been reported. Herein, mice with skeletal muscle-specific deletion of carnitine palmitoyltransferase 1b (Cpt1bM−/−), which limits mitochondrial lipid entry, were fed a moderate fat (25%) diet, and samples were subjected to a multimodal analysis merging transcriptomics, proteomics, and nontargeted metabolomics to characterize the coordinated multilevel cellular...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Editors ' Picks Source Type: research
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