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Mitochondrion

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https://www.readbyqxmd.com/read/27890822/visual-light-effects-on-mitochondria-the-potential-implications-in-relation-to-glaucoma
#1
Neville N Osborne, Claudia Núñez-Álvarez, Susana Del Olmo-Aguado, Jesús Merrayo-Lloves
Light of different wave-lengths have the potential to interact with four major mitochondrial protein complexes that are involved in the generation of ATP. Neurones of the central nervous system have an absolute dependence on mitochondrial generated ATP. Laboratory studies show that short-wave or blue light (400-480nm) that impinges on the retina affect flavin and cytochrome constituents associated with mitochondria to decrease the rate of ATP formation, stimulate ROS and results in cell death. This suggests that blue light could potentially have a negative influence on retinal ganglion cell (RGC) mitochondria that are abundant and not shielded by macular pigments as occurs for photoreceptor mitochondria...
November 24, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27865797/radboud-centre-for-mitochondrial-medicine-pediatric-mri-score
#2
Sheila Suet-Na Wong, Bozena Goraj, Cheuk-Wing Fung, Jeroen Vister, Lonneke de Boer, Saskia Koene, Jan Smeitink
We developed the first user-friendly, semi-quantitative, and quick-to-perform Radboud Centre for Mitochondrial Medicine Pediatric MRI score (RCMM-PMRIS), focusing on the six most commonly described neuroimaging abnormalities in the literature. The RCMM-PMRIS was validated through individual review of 30 sets of brain MRI studies in 24 patients with genetically confirmed mitochondrial disorders by six raters. The application of RCMM-PMRIS can help to define the extent of the brain involvement and therefore to assess the radiological mitochondrial disease severity, to monitor disease progression and consequently to act as an outcome measure for treatment effects in patients with mitochondrial disease...
November 16, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27856367/dysphagia-is-prevalent-in-patients-with-cpeo-and-single-large-scale-deletions-in-mtdna
#3
Gitte Hedermann, Nicoline Løkken, Julia R Dahlqvist, John Vissing
BACKGROUND: The aim of this study was to assess the frequency of subjective and objective dysphagia in patients with chronic progressive external ophthalmoplegia (CPEO) due to single, large-scale deletions (LSDs) of mitochondrial DNA (mtDNA). METHODS: Sixteen patients with CPEO and single LSDs of mtDNA were included in the study and compared to a control group of 12 patients with the m.3243A>G mtDNA mutation. Patients had to drink 80ml of water at 4°C as fast as they could (cold-water test) and fill out a standardized questionnaire about dysphagia...
November 14, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27847334/investigating-leber-s-hereditary-optic-neuropathy-cell-models-and-future-perspectives
#4
REVIEW
Elona Jankauskaitė, Ewa Bartnik, Agata Kodroń
Leber's hereditary optic neuropathy (LHON) was the first human disease found to be associated with a mitochondrial DNA (mtDNA) point mutation. The most common LHON mutations are 11778G>A, 3460G>A or 14484T>C. The most common clinical features of LHON are optic nerve and retina atrophy. The affected tissue is not available for studies, therefore a variety of other cell types are used. However, all models face difficulties and limitations in mitochondrial disease research. The advantages and disadvantages of different cell models used to study LHON, recent advances in animal model generation and novel approaches in this field are discussed...
November 12, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27845271/characterizing-the-mitochondrial-dna-polymerase-gamma-interactome-by-bioid-identifies-ruvbl2-localizes-to-the-mitochondria
#5
Sanduni U Liyanage, Etienne Coyaud, Estelle M N Laurent, Rose Hurren, Neil Maclean, Stuart R Wood, Lawrence Kazak, Aisha Shamas-Din, Ian Holt, Brian Raught, Aaron Schimmer
Human mitochondrial DNA (mtDNA) is replicated by the mitochondrial DNA polymerase gamma (POLG). Using proximity dependent biotin labelling (BioID), we characterized the POLG interactome and identified new interaction partners involved in mtDNA maintenance, transcription, translation and protein quality control. We also identified interaction with the nuclear AAA+ ATPase Ruvbl2, suggesting mitochondrial localization for this protein. Ruvbl2 was detected in mitochondria-enriched fractions in leukemic cells. Additionally, transgenic overexpression of Ruvbl2 from an alternative translation initiation site resulted in mitochondrial co-localization...
November 11, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27838478/random-shearing-as-an-alternative-to-digestion-for-mitochondrial-dna-processing-in-droplet-digital-pcr
#6
Andrej Vitomirov, Miguel Ramirez-Gaona, Sanjay R Mehta, Josué Pérez-Santiago
Droplet digital PCR (ddPCR) is a quantitative assay that requires DNA fragmentation to maximize reaction efficiency. Here, we measured the proportion of mitochondrial DNA (mtDNA) carrying the "common deletion," a rare event, to compare quantification sensitivities between alternative DNA fragmentation methods (sonication and QIAshredder spin columns) against enzymatic digestion (traditionally used). QIAshredder showed the highest sensitivity when compared to sonication, followed by digestion. Also, both sonication and QIAshredder fragmentation had shorter processing times than enzymatic digestion; therefore, QIAshredder fragmentation and sonication are alternative DNA processing methods that maximize ddPCR quantification for the detection of rare events...
November 10, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27838477/no-evidence-of-ischemia-in-stroke-like-lesions-of-mitochondrial-polg-encephalopathy
#7
Charalampos Tzoulis, Eilen Henriksen, Hrvoje Miletic, Laurence A Bindoff
Stroke-like lesions are characteristically associated with mitochondrial encephalopathies such as those caused by mutations of polymerase gamma (POLG) and the m.3243A>G mitochondrial DNA (mtDNA) mutation. The combination of acute clinical onset, MRI and pathological abnormalities, have led to the suggestion that these lesions are ischemic. Here, we sought to determine the role of ischemia in the pathogenesis of mitochondrial stroke-like lesions. We performed a systematic study of cerebral blood vessel morphology, density and distribution in post mortem brain tissue from nine patients with POLG-encephalopathy and seven neurologically healthy controls...
November 10, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27836624/identification-of-amino-acid-residues-of-mammalian-mitochondrial-phosphate-carrier-important-for-its-functional-expression-in-yeast-cells-as-achieved-by-pcr-mediated-random-mutation-and-gap-repair-cloning
#8
Ryohei Yamagoshi, Takenori Yamamoto, Mitsuru Hashimoto, Ryohei Sugahara, Takahiro Shiotsuki, Hideto Miyoshi, Hiroshi Terada, Yasuo Shinohara
The mitochondrial phosphate carrier (PiC) of mammals, but not the yeast one, is synthesized with a presequence. The deletion of this presequence of the mammalian PiC was reported to facilitate the import of the carrier into yeast mitochondria, but the question as to whether or not mammalian PiC could be functionally expressed in yeast mitochondria was not addressed. In the present study, we first examined whether the defective growth on a glycerol plate of yeast cells lacking the yeast PiC gene could be reversed by the introduction of expression vectors of rat PiCs...
November 9, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27832997/effects-of-doxorubicin-on-cardiac-muscle-subsarcolemmal-and-intermyofibrillar-mitochondria
#9
Andreas N Kavazis, Aaron B Morton, Stephanie E Hall, Ashley J Smuder
Doxorubicin (DOX) is a highly effective chemotherapeutic used in the treatment of a broad spectrum of malignancies. However, clinical use of DOX is highly limited by cumulative and irreversible cardiomyopathy that occurs following DOX treatment. The pathogenesis of DOX-induced cardiac muscle dysfunction is complex. However, it has been proposed that the etiology of this myopathy is related to mitochondrial dysfunction, as a result of the dose-dependent increase in the mitochondrial accumulation of DOX. In this regard, cardiac muscle possesses two morphologically distinct populations of mitochondria...
November 8, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27826120/mitochondrial-oxidative-phosphorylation-disorders-in-children-phenotypic-genotypic-and-biochemical-correlations-in-85-patients-from-south-india
#10
Kothari Sonam, Parayil Sankaran Bindu, M M Srinivas Bharath, Periyasamy Govindaraj, Narayanappa Gayathri, Hanumanthapura R Arvinda, Shwetha Chiplunkar, Madhu Nagappa, Sanjib Sinha, Nahid Akhtar Khan, Vandana Nunia, Arumugam Paramasivam, Kumarasamy Thangaraj, Arun B Taly
Mitochondrial oxidative phosphorylation (OXPHOS) disorders accounts for a variety of neuromuscular disorders in children. In this study mitochondrial respiratory chain enzymes were assayed in muscle tissue in a large cohort of children with varied neuromuscular presentations from June 2011 to December 2013. The biochemical enzyme deficiencies were correlated with the phenotypes, magnetic resonance imaging, histopathology and genetic findings to reach a final diagnosis. There were 85 children (mean age: 6.9±4...
November 5, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27721048/characterization-of-a-leber-s-hereditary-optic-neuropathy-lhon-family-harboring-two-primary-lhon-mutations-m-11778g-a-and-m-14484t-c-of-the-mitochondrial-dna
#11
Claudia B Catarino, Uwe Ahting, Mirjana Gusic, Arcangela Iuso, Birgit Repp, Katrin Peters, Saskia Biskup, Bettina von Livonius, Holger Prokisch, Thomas Klopstock
Leber's hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that usually leads to acute or subacute bilateral central vision loss. In 95% of cases, LHON is caused by one of three primary mutations of the mitochondrial DNA (mtDNA), m.11778G>A in the MT-ND4 gene, m.14484T>C in the MT-ND6 gene, or m.3460G>A in the MT-ND1 gene. Here we characterize clinically, genetically, and biochemically a LHON family with multiple patients harboring two of these primary LHON mutations, m.11778G>A homoplasmic and m...
October 6, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27771494/drug-induced-mitochondrial-dysfunction-mechanisms-and-adverse-clinical-consequences
#12
REVIEW
Madhusudanarao Vuda, Ashwin Kamath
Several commonly used medications impair mitochondrial function resulting in adverse effects or toxicities. Drug induced mitochondrial dysfunction may be a consequence of increased production of reactive oxygen species, altered mitochondrial permeability transition, impaired mitochondrial respiration, mitochondrial DNA damage or inhibition of beta-oxidation of fatty acids. The clinical manifestation depends on the specific drug and its effect on mitochondria. Given the ubiquitous presence of mitochondria and its central role in cellular metabolism, drug-mitochondrial interactions may manifest clinically as hepatotoxicity, enteropathy, myelosuppression, lipodystrophy syndrome or neuropsychiatric adverse effects, to name a few...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27769952/changes-in-energy-metabolism-due-to-acute-rotenone-induced-mitochondrial-complex-i-dysfunction-an-in-vivo-large-animal-model
#13
Michael Karlsson, Johannes K Ehinger, Sarah Piel, Fredrik Sjövall, Johanna Henriksnäs, Urban Höglund, Magnus J Hansson, Eskil Elmér
Metabolic crisis is a clinical condition primarily affecting patients with inherent mitochondrial dysfunction in situations of augmented energy demand. To model this, ten pigs received an infusion of rotenone, a mitochondrial complex I inhibitor, or vehicle. Clinical parameters, blood gases, continuous indirect calorimetry, in vivo muscle oxygen tension, ex vivo mitochondrial respiration and metabolomics were assessed. Rotenone induced a progressive increase in blood lactate which was paralleled by an increase in oxygen tension in venous blood and skeletal muscle...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27756633/identification-of-a-novel-deletion-in-surf1-gene-heterogeneity-in-leigh-syndrome-with-cox-deficiency
#14
Carolina Ribeiro, Maria do Carmo Macário, Ana Teresa Viegas, João Pratas, Maria João Santos, Marta Simões, Cândida Mendes, Mafalda Bacalhau, Paula Garcia, Luísa Diogo, Manuela Grazina
Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27717841/a-high-throughput-screen-for-mitochondrial-function-reveals-known-and-novel-mitochondrial-toxicants-in-a-library-of-environmental-agents
#15
Sandipan Datta, Sunil Sahdeo, Jennifer A Gray, Christophe Morriseau, Bruce D Hammock, Gino Cortopassi
Mitochondrial toxicity is emerging as a major mechanism underlying serious human health consequences. This work performs a high-throughput screen (HTS) of 176 environmental chemicals for mitochondrial toxicity utilizing a previously reported biosensor platform. This established HTS confirmed known mitochondrial toxins and identified novel mitotochondrial uncouplers such as 2, 2'-Methylenebis(4-chlorophenol) and pentachlorophenol. It also identified a mitochondrial 'structure activity relationship' (SAR) in the sense that multiple environmental chlorophenols are mitochondrial inhibitors and uncouplers...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27697518/metabolic-flexibility-of-mitochondrial-respiratory-chain-disorders-predicted-by-computer-modelling
#16
Łukasz P Zieliński, Anthony C Smith, Alexander G Smith, Alan J Robinson
Mitochondrial respiratory chain dysfunction causes a variety of life-threatening diseases affecting about 1 in 4300 adults. These diseases are genetically heterogeneous, but have the same outcome; reduced activity of mitochondrial respiratory chain complexes causing decreased ATP production and potentially toxic accumulation of metabolites. Severity and tissue specificity of these effects varies between patients by unknown mechanisms and treatment options are limited. So far most research has focused on the complexes themselves, and the impact on overall cellular metabolism is largely unclear...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27693765/two-novel-mitochondrial-trna-mutations-a7495g-trna-ser-ucn-and-c5577t-trna-trp-are-associated-with-seizures-and-cardiac-dysfunction
#17
Djurdja Djordjevic, Lauren Brady, Renkui Bai, Mark A Tarnopolsky
We describe here two novel mitochondrial mutations associated with a complex mitochondrial encephalopathy. An A to G transition at position 7495 (MT-TS1 (MT-tRNSer(UCN))) was identified at 83% heteroplasmy in the muscle of a four year old female with ptosis, hypotonia, seizures, and dilated cardiomyopathy (Case 1). A homoplasmic C to T transition at position 5577 (MT-TW (MT-tRNATrp)) was found in a twenty-four year old woman with exercise intolerance, mild muscle weakness, hearing loss, seizures, and cognitive decline (Case 2)...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27650502/alterations-of-mitochondrial-biogenesis-in-chronic-lymphocytic-leukemia-cells-with-loss-of-p53
#18
Marcia A Ogasawara, Jinyun Liu, Helene Pelicano, Naima Hammoudi, Carlo M Croce, Michael J Keating, Peng Huang
Deletion of chromosome 17p with a loss of p53 is an unfavorable cytogenetic change in chronic lymphocytic leukemia (CLL) with poor clinical outcome. Since p53 affects mitochondrial function and integrity, we examined possible mitochondrial changes in CLL mice with TCL1-Tg/p53(-/-) and TCL1-Tg/p53(+/+) genotypes and in primary leukemia cells from CLL patients with or without 17p-deletion. Although the expression of mitochondrial COX1, ND2, and ND6 decreased in p53(-/-)CLL cells, there was an increase in mitochondrial biogenesis as evidenced by higher mitochondrial mass and mtDNA copy number associated with an elevated expression of TFAM and PGC-1α...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27628068/practicability-of-mitochondrial-heteroplasmy-detection-through-an-illumina-genotyping-array
#19
Pan Zhang, David C Samuels, Shilin Zhao, Jing Wang, Yu Shyr, Yan Guo
MOTIVATION: High-throughput genomic data often contain unexpected information that can be mined for alternative applications. Despite the rise of high-throughput sequencing, Illumina genotyping arrays remain a driving force in large scale genetic and epidemiology studies. By processing and analyzing genotyping data of over 100,000 samples genotyped on Illumina genotyping arrays, we discovered evidence that indicates that mitochondrial heteroplasmy can be estimated from the fluorescence intensity data of the array...
November 2016: Mitochondrion
https://www.readbyqxmd.com/read/27566481/effects-of-reduced-mitochondrial-dna-content-on-secondary-mitochondrial-toxicant-exposure-in-caenorhabditis-elegans
#20
Anthony L Luz, Joel N Meyer
The mitochondrial genome (mtDNA) is intimately linked to cellular and organismal health, as demonstrated by the fact that mutations in and depletion of mtDNA result in severe mitochondrial disease in humans. However, cells contain hundreds to thousands of copies of mtDNA, which provides genetic redundancy, and creates a threshold effect in which a large percentage of mtDNA must be lost prior to clinical pathogenesis. As certain pharmaceuticals and genetic mutations can result in depletion of mtDNA, and as many environmental toxicants target mitochondria, it is important to understand whether reduced mtDNA will sensitize an individual to toxicant exposure...
September 2016: Mitochondrion
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