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Human mtDNA

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https://www.readbyqxmd.com/read/28811665/optimization-of-storage-temperature-for-retention-of-undifferentiated-cell-character-of-cultured-human-epidermal-cell-sheets
#1
Catherine J Jackson, Sjur Reppe, Jon R Eidet, Lars Eide, Kim A Tønseth, Linda H Bergersen, Darlene A Dartt, May Griffith, Tor P Utheim
Cultured epidermal cell sheets (CES) containing undifferentiated cells are useful for treating skin burns and have potential for regenerative treatment of other types of epithelial injuries. The undifferentiated phenotype is therefore important for success in both applications. This study aimed to optimize a method for one-week storage of CES for their widespread distribution and use in regenerative medicine. The effect of storage temperatures 4 °C, 8 °C, 12 °C, 16 °C, and 24 °C on CES was evaluated...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801517/effect-of-densely-ionizing-radiation-on-cardiomyocyte-differentiation-from-human-induced-pluripotent-stem-cells
#2
Erdene Baljinnyam, Sundararajan Venkatesh, Richard Gordan, Satvik Mareedu, Jianyi Zhang, Lai-Hua Xie, Edouard I Azzam, Carolyn K Suzuki, Diego Fraidenraich
The process of human cardiac development can be faithfully recapitulated in a culture dish with human pluripotent stem cells, where the impact of environmental stressors can be evaluated. The consequences of ionizing radiation exposure on human cardiac differentiation are largely unknown. In this study, human-induced pluripotent stem cell cultures (hiPSCs) were subjected to an external beam of 3.7 MeV α-particles at low mean absorbed doses of 0.5, 3, and 10 cGy. Subsequently, the hiPSCs were differentiated into beating cardiac myocytes (hiPSC-CMs)...
August 2017: Physiological Reports
https://www.readbyqxmd.com/read/28799621/ancient-dna-analysis-might-suggest-external-origin-of-individuals-from-chamber-graves-placed-in-medieval-cemetery-in-pie%C3%A5-central-poland
#3
Tomasz Płoszaj, Krystyna Jędrychowska-Dańska, Alicja Zamerska, Alicja Drozd-Lipińska, Dariusz Poliński, Andrzej Janowski, Henryk Witas
The participation of immigrants during early days in Poland of Piast's dynasty is a debated issue among archaeologists and anthropologists alike. Such hypotheses were formulated on the basis of, amongst others, the discovery of early medieval chamber graves characterized by construction features typical of the Scandinavian culture area. Archaeological and anthropological studies to date have not provided an unequivocal answer as to whether the individuals interred in those graves were autochthons who adopted a different burial rite, or perhaps immigrants from foreign lands...
August 11, 2017: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
https://www.readbyqxmd.com/read/28799012/mtdna-genomes-reveal-a-relaxation-of-selective-constraints-in-low-bmi-individuals-in-a-uyghur-population
#4
Hong-Xiang Zheng, Lei Li, Xiao-Yan Jiang, Shi Yan, Zhendong Qin, Xiaofeng Wang, Li Jin
Considerable attention has been focused on the effect of deleterious mutations caused by the recent relaxation of selective constraints on human health, including the prevalence of obesity, which might represent an adaptive response of energy-conserving metabolism under the conditions of modern society. Mitochondrial DNA (mtDNA) encoding 13 core subunits of oxidative phosphorylation plays an important role in metabolism. Therefore, we hypothesized that a relaxation of selection constraints on mtDNA and an increase in the proportion of deleterious mutations have played a role in obesity prevalence...
August 10, 2017: Human Genetics
https://www.readbyqxmd.com/read/28793858/mtdna-structure-the-women-who-formed-the-brazilian-northeast
#5
Ana Paula Schaan, Lorenna Costa, Diego Santos, Antonio Modesto, Marcos Amador, Camile Lopes, Sílvia Helena Rabenhorst, Raquel Montenegro, Bruno D A Souza, Thayson Lopes, France Keiko Yoshioka, Giovanny Pinto, Vivian Silbiger, Ândrea Ribeiro-Dos-Santos
BACKGROUND: The distribution of mitochondrial DNA (mtDNA) lineages in Brazil is heterogeneous due to different regional colonization dynamics. Northeastern Brazil, although being an important region in terms of human imigration and ethnic admixture, has little information regarding its population mtDNA composition. Here, we determine which mitochondrial lineages contributed to the formation of the Northeastern Brazilian population. Our sample consisted of 767 individuals distributed as follows i) 550 individuals from eight Northeastern states (Piauí, Ceará, Rio Grande do Norte, Paraíba, Pernambuco, Alagoas, Sergipe, and Bahia) which were sequenced for mtDNA hypervariable segments I, II, and III; ii) 217 individuals from Alagoas and Pernambuco (previously published data)...
August 9, 2017: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/28789970/mitochondrial-fusion-fission-and-mitochondrial-toxicity
#6
Joel N Meyer, Tess C Leuthner, Anthony L Luz
Mitochondrial dynamics are regulated by two sets of opposed processes: mitochondrial fusion and fission, and mitochondrial biogenesis and degradation (including mitophagy), as well as processes such as intracellular transport. These processes maintain mitochondrial homeostasis, regulate mitochondrial form, volume and function, and are increasingly understood to be critical components of the cellular stress response. Mitochondrial dynamics vary based on developmental stage and age, cell type, environmental factors, and genetic background...
August 5, 2017: Toxicology
https://www.readbyqxmd.com/read/28789597/mtdna-depletion-influences-the-transition-of-cd44-subtypes-in-human-prostate-cancer-du145-cells
#7
Xiaoran Li, Mantas Grigalavicius, Yaqing Li, Xiaoli Li, Yali Zhong, Ruixia Huang, Dandan Yu, Viktor Berge, Mariusz Adam Goscinski, Gunnar Kvalheim, Jahn M Nesland, Zhenhe Suo
Our earlier study revealed that long-term ethidium bromide application causes mitochondrial DNA depletion in human prostate cancer DU145 cell line (DU145(MtDP)), and this DU145(MtDP) subline appears to have expanded CD44(Bright) cell population than its parental wild type DU145 cells (DU145(WT)). Increasing evidence suggests that CD44(Bright) cells are highly cancer stem cell like, but it is not clear about their dynamic transition between CD44(Dim) and CD44(Bright) phenotypes in prostate cancer cells, and how it is affected by mitochondrial DNA depletion...
August 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28783377/extracellular-mitochondrial-dna-is-generated-by-fibroblasts-and-predicts-death-in-idiopathic-pulmonary-fibrosis
#8
Changwan Ryu, Huanxing Sun, Mridu Gulati, Jose D Herazo-Maya, Yonglin Chen, Awo Osafo-Addo, Caitlin Brandsdorfer, Julia Winkler, Christina Blaul, Jaden Faunce, Hongyi Pan, Tony Woolard, Argyrios Tzouvelekis, Danielle E Antin-Ozerkis, Jonathan T Puchalski, Martin Slade, Anjelica L Gonzalez, Daniel F Bogenhagen, Varvara Kirillov, Carol Feghali-Bostwick, Kevin Gibson, Kathleen Lindell, Raimund I Herzog, Charles S Dela Cruz, Wajahat Mehal, Naftali Kaminski, Erica Herzog, Glenda Trujillo
RATIONALE: Idiopathic pulmonary fibrosis (IPF) involves the accumulation of alpha smooth muscle actin (αSMA) expressing myofibroblasts arising from interactions with soluble mediators such as transforming growth factor beta-1 (TGFβ1), and mechanical influences such as local tissue stiffness. While IPF fibroblasts are enriched for aerobic glycolysis and innate immune receptor activation, innate immune ligands related to mitochondrial injury, such as extracellular mitochondrial DNA (mtDNA) have not been identified in IPF...
August 7, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28780151/genetic-differentiation-of-the-g6-7-cluster-of-echinococcus-canadensis-based-on-mitochondrial-marker-genes
#9
Francis Addy, Marion Wassermann, Dorothy Kagendo, Dennis Ebi, Eberhard Zeyhle, Ibrahim E Elmahdi, Gerald Umhang, Adriano Casulli, Majid F Harandi, Ortwin Aschenborn, Peter Kern, Ute Mackenstedt, Thomas Romig
Among the genotype/species causing cystic echinococcosis, the taxonomic status of Echinococcus canadensis is only partially resolved. Within E. canadensis, four genotypes (G6, G7, G8 and G10) have been described based on short mitochondrial sequences, of which G6 and G7 (the 'camel' and the 'pig' strain, respectively) are closely related and variously regarded as microvariants of a single strain G6/7. Globally, this G6/7 cluster is the second most important agent of human cystic echinococcosis and is the predominant Echinococcus taxon in large parts of sub-Saharan Africa...
August 3, 2017: International Journal for Parasitology
https://www.readbyqxmd.com/read/28777931/biallelic-mutations-in-mrps34-lead-to-instability-of-the-small-mitoribosomal-subunit-and-leigh-syndrome
#10
Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente, Alison G Compton, Hayley S Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Rio, Nathalie Bodaert, Zahra Assouline, Mingma D Sherpa, Eric E Schadt, Sander M Houten, James Byrnes, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Katrina Haude, Zhancheng Zhang, Kyle Retterer, Renkui Bai, Sarah E Calvo, Vamsi K Mootha, John Christodoulou, Agnes Rötig, Aleksandra Filipovska, Ingrid Cristian, Marni J Falk, Metodi D Metodiev, David R Thorburn
The synthesis of all 13 mitochondrial DNA (mtDNA)-encoded protein subunits of the human oxidative phosphorylation (OXPHOS) system is carried out by mitochondrial ribosomes (mitoribosomes). Defects in the stability of mitoribosomal proteins or mitoribosome assembly impair mitochondrial protein translation, causing combined OXPHOS enzyme deficiency and clinical disease. Here we report four autosomal-recessive pathogenic mutations in the gene encoding the small mitoribosomal subunit protein, MRPS34, in six subjects from four unrelated families with Leigh syndrome and combined OXPHOS defects...
August 3, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28765009/involvement-of-trnas-in-replication-of-human-mitochondrial-dna-and-modifying-effects-of-telomerase
#11
Meenakshisundaram Balasubramaniam, Robert J Shmookler Reis, D Phil, Srinivas Ayyadevara, Xianwei Wang, Akshatha Ganne, Magomed Khaidakov
Overexpression of telomerase has been shown to significantly increase the lifespan of mice. When mechanistically attributed to repair of critically short telomeres, the lifespan extending action of telomerase cannot be reconciled with the observation that telomerase-null mice do not exhibit shortening of lifespan for at least two generations. We hypothesized that telomerase may interfere with replication of mitochondrial DNA (mtDNA) in a way that reduces formation of deletions - the primary cause of age-dependent cell attrition in non-renewable cells such as myocytes and neurons...
July 29, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28764637/invasive-anisakiasis-by-the-parasite-anisakis-pegreffii-nematoda-anisakidae-diagnosis-by-real-time-pcr-hydrolysis-probe-system-and-immunoblotting-assay
#12
Simonetta Mattiucci, Michela Paoletti, Alessandra Colantoni, Antonella Carbone, Raffaele Gaeta, Agnese Proietti, Stefano Frattaroli, Paolo Fazii, Fabrizio Bruschi, Giuseppe Nascetti
BACKGROUND: Anisakiasis is a fish-borne zoonosis caused by Anisakis spp. larvae. One challenging issue in the diagnosis of anisakiasis is the molecular detection of the etiological agent even at very low quantity, such as in gastric or intestinal biopsy and granulomas. Aims of this study were: 1) to identify three new cases of invasive anisakiasis, by a species-specific Real-time PCR probe assay; 2) to detect immune response of the patients against the pathogen. METHODS: Parasite DNA was extracted from parasites removed in the three patients...
August 1, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28756741/modulation-of-mitochondrial-dna-copy-number-to-induce-hepatocytic-differentiation-of-human-amniotic-epithelial-cells
#13
Vijesh Vaghjiani, Jason E Cain, William Lee, Vijayaganapathy Vaithilingam, Bernard E Tuch, Justin St John
Mitochondrial DNA (mtDNA) copy number is tightly regulated during pluripotency and differentiation. There is increased demand of cellular ATP during differentiation for energy intensive cell types such as hepatocytes and neurons to meet the cell's functional requirements. During hepatocyte differentiation, mtDNA copy number must be synchronously increased to generate sufficient ATP through oxidative phosphorylation. Unlike bone marrow mesenchymal cells (BM-MSC), mtDNA copy number failed to increase by 28 days of differentiation of Human Amniotic Epithelial Cells (hAEC) into Hepatocyte-Like Cells (HLC) despite their expression of some end stage hepatic markers...
July 29, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/28756246/inherited-mitochondrial-genomic-instability-and-chemical-exposures
#14
Sherine S L Chan
There are approximately 1,500 proteins that are needed for mitochondrial structure and function, most of which are encoded in the nuclear genome (Calvo et al., 2006). Each mitochondrion has its own genome (mtDNA), which in humans encodes 13 polypeptides, 22 tRNAs and 2 rRNAs required for oxidative phosphorylation. The mitochondrial genome of humans and most vertebrates is approximately 16.5 kbp, double-stranded, circular, with few non-coding bases. Thus, maintaining mtDNA stability, that is, the ability of the cell to maintain adequate levels of mtDNA template for oxidative phosphorylation is essential and can be impacted by the level of mtDNA mutation currently within the cell or mitochondrion, but also from errors made during normal mtDNA replication, defects in mitochondrial quality control mechanisms, and exacerbated by exposures to exogenous and/or endogenous genotoxic agents...
July 26, 2017: Toxicology
https://www.readbyqxmd.com/read/28754700/segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders
#15
Pauline Vachin, Elodie Adda-Herzog, Gihad Chalouhi, Caroline Elie, Marlène Rio, Sophie Rondeau, Nadine Gigarel, Fabienne Jabot Hanin, Sophie Monnot, Roxana Borghese, Joana Bengoa, Yves Ville, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont, Julie Steffann
BACKGROUND: Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load on a chorionic villous sample (CVS). Such procedures are hampered by the lack of data regarding mtDNA segregation in the placenta.The objectives of this report were to determine whether mutant loads (1) are homogeneously distributed across the whole placentas, (2) correlate with those in amniocytes and cord blood cells and (3) correlate with the mtDNA copy number...
July 28, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28751889/morphological-and-mitochondrial-genomic-characterization-of-eyeworms-thelazia-callipaeda-from-clinical-cases-in-central-china
#16
Xi Zhang, Ya L Shi, Zhong Q Wang, Jiang Y Duan, Peng Jiang, Ruo D Liu, Jing Cui
Thelazia callipaeda, also called the oriental eyeworm, is the major etiological agent of human thelaziasis. Cases of thelaziasis have increased in recent years in China. Although this species is of medical importance, the genetics and phylogenetic systematics of T. callipaeda are poorly understood. In this study, we first reported three cases of thelaziasis in central China. All clinical isolates were identified as T. callipaeda according to morphological characteristics by light microscopy and scanning electron microscopy...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28751712/activation-of-mitophagy-leads-to-decline-in-mfn2-and-loss-of-mitochondrial-mass-in-fuchs-endothelial-corneal-dystrophy
#17
Anne-Sophie Benischke, Shivakumar Vasanth, Takashi Miyai, Kishore Reddy Katikireddy, Tomas White, Yuming Chen, Adna Halilovic, Marianne Price, Francis Price, Paloma B Liton, Ula V Jurkunas
Human corneal endothelial cells (HCEnCs) are terminally differentiated cells that have limited regenerative potential. The large numbers of mitochondria in HCEnCs are critical for pump and barrier function required for corneal hydration and transparency. Fuchs Endothelial Corneal Dystrophy (FECD) is a highly prevalent late-onset oxidative stress disorder characterized by progressive loss of HCEnCs. We previously reported increased mitochondrial fragmentation and reduced ATP and mtDNA copy number in FECD. Herein, carbonyl cyanide m-chlorophenyl hydrazone (CCCP)-induced mitochondrial depolarization decreased mitochondrial mass and Mfn2 levels, which were rescued with mitophagy blocker, bafilomycin, in FECD...
July 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28745586/unexpected-sequences-and-structures-of-mtdna-required-for-efficient-transcription-from-the-first-heavy-strand-promoter
#18
Akira Uchida, Divakaran Murugesapillai, Markus Kastner, Yao Wang, Maria F Lodeiro, Shaan Prabhakar, Guinevere V Oliver, Jamie J Arnold, L James Maher, Mark C Williams, Craig E Cameron
Human mtDNA contains three promoters, suggesting a need for differential expression of the mitochondrial genome. Studies of mitochondrial transcription have used a reductionist approach, perhaps masking differential regulation. Here we evaluate transcription from light-strand (LSP) and heavy-strand (HSP1) promoters using templates that mimic their natural context. These studies reveal sequences upstream, hypervariable in the human population (HVR3), and downstream of the HSP1 transcription start site required for maximal yield...
July 26, 2017: ELife
https://www.readbyqxmd.com/read/28745585/maturation-of-selected-human-mitochondrial-trnas-requires-deadenylation
#19
Sarah F Pearce, Joanna Rorbach, Lindsey Van Haute, Aaron R D'Souza, Pedro Rebelo-Guiomar, Christopher A Powell, Ian Brierley, Andrew E Firth, Michal Minczuk
Human mitochondria contain a genome (mtDNA) that encodes essential subunits of the oxidative phosphorylation system. Expression of mtDNA entails multi-step maturation of precursor RNA. In other systems, the RNA life cycle involves surveillance mechanisms, however, the details of RNA quality control have not been extensively characterised in human mitochondria. Using a mitochondrial ribosome profiling and mitochondrial poly(A)-tail RNA sequencing (MPAT-Seq) assay, we identify the poly(A)-specific exoribonuclease PDE12 as a major factor for the quality control of mitochondrial non-coding RNAs...
July 26, 2017: ELife
https://www.readbyqxmd.com/read/28732215/a-method-for-next-generation-sequencing-of-paired-diagnostic-and-remission-samples-to-detect-mitochondrial-dna-mutations-associated-with-leukemia
#20
Ilaria S Pagani, Chung H Kok, Verity A Saunders, Mark B Van der Hoek, Susan L Heatley, Anthony P Schwarer, Christopher N Hahn, Timothy P Hughes, Deborah L White, David M Ross
Somatic mitochondrial DNA (mtDNA) mutations have been identified in many human cancers, including leukemia. To identify somatic mutations, it is necessary to have a control tissue from the same individual for comparison. When patients with leukemia achieve remission, the remission peripheral blood may be a suitable and easily accessible control tissue, but this approach has not previously been applied to the study of mtDNA mutations. We have developed and validated a next-generation sequencing approach for the identification of leukemia-associated mtDNA mutations in 26 chronic myeloid leukemia patients at diagnosis using either nonhematopoietic or remission blood samples as the control...
July 18, 2017: Journal of Molecular Diagnostics: JMD
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