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https://www.readbyqxmd.com/read/29128369/inhibition-of-poly-adp-ribose-polymerase-1-alters-expression-of-mitochondria-related-genes-in-pc12-cells-relevance-to-mitochondrial-homeostasis-in-neurodegenerative-disorders
#1
Grzegorz A Czapski, Magdalena Cieślik, Przemysław L Wencel, Sylwia Wójtowicz, Robert P Strosznajder, Joanna B Strosznajder
Alzheimer's disease (AD) is characterized by the release of amyloid beta peptides (Aβ) in the form of monomers/oligomers which may lead to oxidative stress, mitochondria dysfunction, synaptic loss, neuroinflammation and, in consequence, to overactivation of poly(ADP-ribose) polymerase-1 (PARP-1). However, Aβ peptides are also released in the brain ischemia, traumatic injury and in inflammatory response. PARP-1 is suggested to be a promising target in therapy of neurodegenerative disorders. We investigated the impact of PARP-1 inhibition on transcription of mitochondria-related genes in PC12 cells...
November 8, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29111013/genotype-phenotype-and-oct-correlations-in-autosomal-dominant-optic-atrophy-related-to-opa1-gene-mutations-report-of-13-italian-families
#2
E Pretegiani, F Rosini, A Rufa, G N Gallus, E Cardaioli, P Da Pozzo, S Bianchi, V Serchi, M Collura, R Franceschini, S Bianchi Marzoli, M T Dotti, A Federico
Mutations in OPA1 are responsible of 32-89% cases of Autosomal Dominant Optic Atrophy (ADOA). OPA1 ADOA usually presents in childhood with bilateral, progressive visual loss due to retinal ganglion cells neurodegeneration, but environmental factors are supposed to influence onset and phenotype. Sixty Italian OPA1 mutations carriers (fifty-two symptomatic), belonging to thirteen families, underwent neuro-ophthalmologic evaluation. Visual acuity (n=60) and Optical Coherence Tomography (OCT) (n=12) were compared in missense mutations (OPA-M) versus haploinsufficiency-inducing mutations (OPA-H) and correlated with age...
November 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29092894/mitochondrial-reactive-oxygen-species-in-lipotoxic-hearts-induces-post-translational-modifications-of-akap121-drp1-and-opa1-that-promote-mitochondrial-fission
#3
Kensuke Tsushima, Heiko Bugger, Adam R Wende, Jamie Soto, Gregory A Jenson, Austin R Tor, Rose McGlauflin, Helena C Kenny, Yuan Zhang, Rhonda Souvenir, Xiao X Hu, Crystal L Black, Renata O Pereira, Vitor A Lira, Kenneth Spitzer, Terry L Sharp, Kooresh I Shoghi, Genevieve C Sparagna, Eva A Rog-Zielinska, Peter Kohl, Oleh Khalimonchuk, Jean E Schaffer, E Dale Abel
Rationale: Cardiac lipotoxicity, characterized by increased uptake, oxidation and accumulation of lipid intermediates, contributes to cardiac dysfunction in obesity and diabetes. However, mechanisms linking lipid overload and mitochondrial dysfunction are incompletely understood. Objective: To elucidate the mechanisms for mitochondrial adaptations to lipid overload in postnatal hearts in vivo. Methods and Results: Using a transgenic mouse model of cardiac lipotoxicity overexpressing long-chain acyl-CoA synthetase 1 in cardiomyocytes, we show that modestly increased myocardial fatty acid uptake leads to mitochondrial structural remodeling with significant reduction in minimum diameter...
November 1, 2017: Circulation Research
https://www.readbyqxmd.com/read/29091347/thickness-mapping-of-individual-retinal-layers-and-sectors-by-spectralis-sd-oct-in-autosomal-dominant-optic-atrophy
#4
Nihada Corajevic, Michael Larsen, Cecilia Rönnbäck
PURPOSE: To assess layer- and location-specific retinal thickness deficits in autosomal dominant optic atrophy (ADOA) using Spectralis SD-OCT. METHODS: This cross-sectional study included 41 ADOA patients with OPA1 exon 28 (2826delT) mutation [age, 8.6-83.5 years; best-corrected visual acuity (BCVA), 8-89 Early Treatment Diabetic Retinopathy Study (ETDRS) letters] and 55 mutation-free first-degree relatives as healthy controls (age, 8.9-68.7; BCVA, 80-99). Participants underwent routine examination and optical coherence tomography (OCT) with segmentation of the whole retina, inner retinal layers (IRL) and outer retinal layers (ORL)...
November 1, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29081403/sirt4-interacts-with-opa1-and-regulates-mitochondrial-quality-control-and-mitophagy
#5
Alexander Lang, Ruchika Anand, Simone Altinoluk-Hambüchen, Hakima Ezzahoini, Anja Stefanski, Afshin Iram, Laura Bergmann, Jennifer Urbach, Philip Böhler, Jan Hänsel, Manuel Franke, Kai Stühler, Jean Krutmann, Jürgen Scheller, Björn Stork, Andreas S Reichert, Roland P Piekorz
The stress-responsive mitochondrial sirtuin SIRT4 controls cellular energy metabolism in a NAD(+)-dependent manner and is implicated in cellular senescence and aging. Here we reveal a novel function of SIRT4 in mitochondrial morphology/quality control and regulation of mitophagy. We report that moderate overexpression of SIRT4, but not its enzymatically inactive mutant H161Y, sensitized cells to mitochondrial stress. CCCP-triggered dissipation of the mitochondrial membrane potential resulted in increased mitochondrial ROS levels and autophagic flux, but surprisingly led to increased mitochondrial mass and decreased Parkin-regulated mitophagy...
October 29, 2017: Aging
https://www.readbyqxmd.com/read/29074197/mitochondrial-dysfunction-perturbations-of-mitochondrial-dynamics-and-biogenesis-involved-in-endothelial-injury-induced-by-silica-nanoparticles
#6
Caixia Guo, Ji Wang, Li Jing, Ru Ma, Xiaoying Liu, Lifang Gao, Lige Cao, Junchao Duan, Xianqing Zhou, Yanbo Li, Zhiwei Sun
As silica nanoparticles (SiNPs) pervade the global economy, however, the followed emissions during the manufacturing, use, and disposal stages inevitably bring an environmental release, potentially result in harmful impacts. Endothelial dysfunction precedes cardiovascular disease, and is often accompanied by mitochondrial impairment and dysfunction. We had reported endothelial dysfunction induced by SiNPs, however, the related mechanisms by which SiNPs interact with mitochondria are not well understood. In the present study, we examined SiNPs-induced mitochondrial dysfunction, and further demonstrated their adverse effects on mitochondrial dynamics and biogenesis in endothelial cells (HUVECs)...
October 24, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/29068134/structure-function-and-regulation-of-mitofusin-2-in-health-and-disease
#7
Gursimran Chandhok, Michael Lazarou, Brent Neumann
Mitochondria are highly dynamic organelles that constantly migrate, fuse, and divide to regulate their shape, size, number, and bioenergetic function. Mitofusins (Mfn1/2), optic atrophy 1 (OPA1), and dynamin-related protein 1 (Drp1), are key regulators of mitochondrial fusion and fission. Mutations in these molecules are associated with severe neurodegenerative and non-neurological diseases pointing to the importance of functional mitochondrial dynamics in normal cell physiology. In recent years, significant progress has been made in our understanding of mitochondrial dynamics, which has raised interest in defining the physiological roles of key regulators of fusion and fission and led to the identification of additional functions of Mfn2 in mitochondrial metabolism, cell signalling, and apoptosis...
October 25, 2017: Biological Reviews of the Cambridge Philosophical Society
https://www.readbyqxmd.com/read/29056898/mitochondrial-bioenergetics-is-altered-in-fibroblasts-from-patients-with-sporadic-alzheimer-s-disease
#8
María J Pérez, Daniela P Ponce, Cesar Osorio-Fuentealba, Maria I Behrens, Rodrigo A Quintanilla
The identification of an early biomarker to diagnose Alzheimer's disease (AD) remains a challenge. Neuropathological studies in animal and AD patients have shown that mitochondrial dysfunction is a hallmark of the development of the disease. Current studies suggest the use of peripheral tissues, like skin fibroblasts as a possibility to detect the early pathological alterations present in the AD brain. In this context, we studied mitochondrial function properties (bioenergetics and morphology) in cultured fibroblasts obtained from AD, aged-match and young healthy patients...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29045675/increased-steroidogenesis-promotes-early-onset-and-severe-vision-loss-in-females-with-opa1-dominant-optic-atrophy
#9
Emmanuelle Sarzi, Marie Seveno, Claire Angebault, Dan Milea, Cecilia Rönnbäck, Melanie Quilès, Mathias Adrian, Joanna Grenier, Angélique Caignard, Annie Lacroux, Christian Lavergne, Pascal Reynier, Michael Larsen, Christian P Hamel, Cécile Delettre, Guy Lenaers, Agnès Müller
No abstract text is available yet for this article.
October 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29040533/hippocampal-phosphorylated-tau-induced-cognitive-decline-dendritic-spine-loss-and-mitochondrial-abnormalities-in-a-mouse-model-of-alzheimer-s-disease
#10
Ramesh Kandimalla, Maria Manczak, Xiangling Yin, Rui Wang, P Hemachandra Reddy
The purpose of our study was to understand the toxic effects of hippocampal phosphorylated tau in tau mice. Using rotarod and Morris Water Maze tests, immunoblotting & immunofluorescence, Golgi-cox staining and transmission electron microscopy, we assessed cognitive behavior, measured protein levels of mitochondrial dynamics, MAP2, total & phosphorylated tau, and quantified dendritic spines and mitochondrial number and length in 12-month-old tau mice with P301L mutation. Mitochondrial function was assessed by measuring the levels of H2O2, lipid peroxidation, cytochrome oxidase activity and mitochondrial ATP...
October 12, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29034899/establishment-of-a-human-doa-plus-ipsc-line-iishdoi003-a-with-the-mutation-in-the-opa1-gene-c-1635c-a-p-ser545arg
#11
Francisco Zurita-Díaz, Teresa Galera-Monge, Ana Moreno-Izquierdo, Marta Corton, Carmen Ayuso, Rafael Garesse, M Esther Gallardo
We have generated a human iPSC line IISHDOi003-A from fibroblasts of a patient with a dominant optic atrophy 'plus' phenotype, harbouring a heterozygous mutation, c.1635C>A; p.Ser545Arg, in the OPA1 gene. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus.
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29030231/als-associated-mutation-sod1-g93a-leads-to-abnormal-mitochondrial-dynamics-in-osteocytes
#12
Huan Wang, Jianxun Yi, Xuejun Li, Yajuan Xiao, Kamal Dhakal, Jingsong Zhou
While the death of motor neuron is a pathological hallmark of amyotrophic lateral sclerosis (ALS), defects in other cell types or organs may also actively contribute to ALS disease progression. ALS patients experience progressive skeletal muscle wasting that may not only exacerbate neuronal degeneration, but likely has a significant impact on bone function. In our previous published study, we have discovered severe bone loss in an ALS mouse model with overexpression of ALS-associated mutation SOD1(G93A) (G93A)...
October 10, 2017: Bone
https://www.readbyqxmd.com/read/28994761/optical-coherence-tomography-imaging-mouse-retinal-ganglion-cells-in-vivo
#13
Jolanta Jagodzinska, Emmanuelle Sarzi, Mélanie Cavalier, Marie Seveno, Volker Baecker, Christian Hamel, Marie Péquignot, Cecile Delettre
Structural changes in the retina are common manifestations of ophthalmic diseases. Optical coherence tomography (OCT) enables their identification in vivo-rapidly, repetitively, and at a high resolution. This protocol describes OCT imaging in the mouse retina as a powerful tool to study optic neuropathies (OPN). The OCT system is an interferometry-based, non-invasive alternative to common post mortem histological assays. It provides a fast and accurate assessment of retinal thickness, allowing the possibility to track changes, such as retinal thinning or thickening...
September 22, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28977005/renal-cold-storage-followed-by-transplantation-impairs-expression-of-key-mitochondrial-fission-and-fusion-proteins
#14
Nirmala Parajuli, Stephen Shrum, Julia Tobacyk, Alex Harb, John M Arthur, Lee Ann MacMillan-Crow
BACKGROUND: The majority of transplanted kidneys are procured from deceased donors which all require exposure to cold storage (CS) for successful transplantation. Unfortunately, this CS leads to renal and mitochondrial damage but, specific mitochondrial targets affected by CS remain largely unknown. The goal of this study is to determine whether pathways involved with mitochondrial fusion or fission, are disrupted during renal CS. METHODS: Male Lewis rat kidneys were exposed to cold storage (CS) alone or cold storage combined with transplantation (CS/Tx)...
2017: PloS One
https://www.readbyqxmd.com/read/28969390/mutations-in-dnm1l-as-in-opa1-result-indominant-optic-atrophy-despite-opposite-effectson-mitochondrial-fusion-and-fission
#15
Sylvie Gerber, Majida Charif, Arnaud Chevrollier, Tanguy Chaumette, Claire Angebault, Mariame Selma Kane, Aurélien Paris, Jennifer Alban, Mélanie Quiles, Cécile Delettre, Dominique Bonneau, Vincent Procaccio, Patrizia Amati-Bonneau, Pascal Reynier, Stéphanie Leruez, Raphael Calmon, Nathalie Boddaert, Benoit Funalot, Marlène Rio, Didier Bouccara, Isabelle Meunier, Hiromi Sesaki, Josseline Kaplan, Christian P Hamel, Jean-Michel Rozet, Guy Lenaers
Dominant optic atrophy is a blinding disease due to the degeneration of the retinal ganglion cells, the axons of which form the optic nerves. In most cases, the disease is caused by mutations in OPA1, a gene encoding a mitochondrial large GTPase involved in cristae structure and mitochondrial network fusion. Using exome sequencing, we identified dominant mutations in DNM1L on chromosome 12p11.21 in three large families with isolated optic atrophy, including the two families that defined the OPA5 locus on chromosome 19q12...
October 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28957766/the-inflammatory-responses-in-cu-mediated-elemental-imbalance-is-associated-with-mitochondrial-fission-and-intrinsic-apoptosis-in-gallus-gallus-heart
#16
Siwen Li, Hongjing Zhao, Yu Wang, Yizhi Shao, Jinglun Li, Juanjuan Liu, Mingwei Xing
Copper (Cu) is an essential trace element for organism of function properly. Overexposure to Cu causes chronic cardiac impairment. The aim of this study was to investigate the change of 28-trace element, inflammatory response, the possible mitochondrial dynamics and apoptosis under Cu exposure in the heart of chickens. Cupric sulfate (CuSO4) (300 mg/kg) was administered in a basal diet to male Hy-line chickens (one-day-old) for 90 days. Results showed the concentrations of Cu in the Cu group were increased by 57...
September 21, 2017: Chemosphere
https://www.readbyqxmd.com/read/28955727/nonsyndromic-parkinson-disease-in-a-family-with-autosomal-dominant-optic-atrophy-due-to-opa1-mutations
#17
David S Lynch, Samantha H Y Loh, Jasmine Harley, Alastair J Noyce, L Miguel Martins, Nicholas W Wood, Henry Houlden, Helene Plun-Favreau
No abstract text is available yet for this article.
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28941528/dominant-optic-atrophy-and-leber-s-hereditary-optic-neuropathy-update-on-clinical-features-and-current-therapeutic-approaches
#18
Bo Young Chun, Joseph F Rizzo
Dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON) are the two most common inherited optic neuropathies encountered in clinical practice. This review provides a summary of recent advances in the understanding of the clinical manifestations, current treatments, and ongoing clinical trials of these two optic neuropathies. Substantial progress has been made in the understanding of the clinical, genetic, and pathophysiological basis of DOA and LHON. Pathogenic OPA1 gene mutations in DOA and 3 primary mutations of mitochondrial DNA in LHON-induced mitochondrial dysfunction, which in turn leads to increased reactive oxygen species levels in mitochondria and possibly insufficient ATP production...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28940366/lon-protease-a-novel-mitochondrial-matrix-protein-in-the-interconnection-between-drug-induced-mitochondrial-dysfunction-and-er-stress
#19
Miriam Polo, Fernando Alegre, Angela B Moragrega, Lara Gibellini, Alberto Marti-Rodrigo, Ana Blas-Garcia, Juan V Esplugues, Nadezda Apostolova
BACKGROUND AND PURPOSE: Mitochondria-associated membranes (MAMs) are specific ER-domains that enable direct interaction with mitochondria and mediate metabolic flow and Ca(2+) transfer. A growing list of proteins have been identified as MAMs components, but how they are recruited and function during complex cell stress situations is still not understood while the participation of mitochondrial matrix proteins is largely undervalued. EXPERIMENTAL APPROACH: This work compares mitochondrial/ER contact during combined ER stress/mitochondrial dysfunction using a model of human hepatoma cells (Hep3B cell line) treated for 24h with classic pharmacological inducers of ER stress (thapsigargin), mitochondrial dysfunction (CCCP or rotenone) or both (the antiretroviral drug Efavirenz used at clinically relevant concentrations)...
September 23, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28939434/inhibition-of-drp1-mediated-mitochondrial-fission-improves-mitochondrial-dynamics-and-bioenergetics-stimulating-neurogenesis-in-hippocampal-progenitor-cells-from-a-down-syndrome-mouse-model
#20
Daniela Valenti, Leonardo Rossi, Domenico Marzulli, Francesco Bellomo, Domenico De Rasmo, Anna Signorile, Rosa Anna Vacca
Functional and structural damages to mitochondria have been critically associated with the pathogenesis of Down syndrome (DS), a human multifactorial disease caused by trisomy of chromosome 21 and associated with neurodevelopmental delay, intellectual disability and early neurodegeneration. Recently, we demonstrated in neural progenitor cells (NPCs) isolated from the hippocampus of Ts65Dn mice -a widely used model of DS - a severe impairment of mitochondrial bioenergetics and biogenesis and reduced NPC proliferation...
September 20, 2017: Biochimica et Biophysica Acta
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