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https://www.readbyqxmd.com/read/28906532/the-aetiology-of-cardiovascular-disease-a-role-for-mitochondrial-dna
#1
REVIEW
Marianne Venter, Francois H van der Westhuizen, Joanna L Elson
Cardiovascular disease (CVD) is a world-wide cause of mortality in humans and its incidence is on the rise in Africa. In this review, we discuss the putative role of mitochondrial dysfunction in the aetiology of CVD and consequently identify mitochondrial DNA (mtDNA) variation as a viable genetic risk factor to be considered. We then describe the contribution and pitfalls of several current approaches used when investigating mtDNA in relation to complex disease. We also propose an alternative approach, the adjusted mutational load hypothesis, which would have greater statistical power with cohorts of moderate size, and is less likely to be affected by population stratification...
August 25, 2017: Cardiovascular Journal of Africa
https://www.readbyqxmd.com/read/28900194/live-imaging-reveals-the-dynamics-and-regulation-of-mitochondrial-nucleoids-during-the-cell-cycle-in-fucci2-hela-cells
#2
Taeko Sasaki, Yoshikatsu Sato, Tetsuya Higashiyama, Narie Sasaki
Mitochondrial DNA (mtDNA) is organized in nucleoprotein complexes called mitochondrial nucleoids (mt-nucleoids), which are critical units of mtDNA replication and transmission. In humans, several hundreds of mt-nucleoids exist in a cell. However, how numerous mt-nucleoids are maintained during the cell cycle remains elusive, because cell cycle synchronization procedures affect mtDNA replication. Here, we analyzed regulation of the maintenance of mt-nucleoids in the cell cycle, using a fluorescent cell cycle indicator, Fucci2...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28873329/mitochondrial-mutations-in-human-cancer-curation-of-translation
#3
Maϊwen Caudron-Herger, Sven Diederichs
As a genetic disease, cancer is caused by the activation of oncogenes and the inhibition of tumor suppressor genes via genetic and epigenetic mechanisms. Given the important role of energy metabolism in tumors, we analyzed the cancer-derived mutations occurring in the DNA of the mitochondrion. Mutations in the mitochondrial DNA (mtDNA) compared to nuclear DNA are 62% decreased relative to the coding length per chromosome. We find that the majority of these mutations affects highly conserved nucleotides - significantly exceeding the conservation of the mtDNA - and are devoid of single nucleotide polymorphisms (SNPs)...
September 5, 2017: RNA Biology
https://www.readbyqxmd.com/read/28870729/tigecylcine-induced-inhibition-of-mitochondrial-mtdna-translation-may-cause-a-lethal-mitochondrial-dysfunction-in-human
#4
S J Vandecasteele, S Seneca, J Smet, M Reynders, J De Ceulaer, A V Vanlander, R Van Coster
OBJECTIVES: A 65-year old patient developed an unexplained and ultimately lethal metabolic acidosis under prolonged treatment with tigecycline. Tigecycline is known to have a selective inhibitory effect on eukaryotic mitochondrial translation. The underlying molecular mechanisms of the metabolic acidosis in this patient were explored. METHODS: OXPHOS analysis, blue native PAGE followed by in-gel activity staining in mitochondria, molecular analysis of mtDNA for genomic rearrangements and sequencing of the rRNA genes was performed on the proband's skeletal muscle...
September 1, 2017: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/28866865/increased-levels-of-mitochondrial-dna-copy-number-in-patients-with-vitiligo
#5
H Vaseghi, M Houshmand, Z Jadali
BACKGROUND: Oxidative stress is known to be involved in the pathogenesis of autoimmune diseases such as vitiligo. Evidence suggests that the human mitochondrial DNA copy number (mtDNAcn) is vulnerable to damage mediated by oxidative stress. The purpose of this study was to examine and compare peripheral blood mtDNAcn and oxidative DNA damage byproducts (8-hydroxy-2-deoxyguanosine; 8-OHdG) in patients with vitiligo and healthy controls (HCs). METHODS: The relative mtDNAcn and the oxidative damage (formation of 8-OHdG in mtDNA) of each sample were determined by real-time quantitative PCR...
September 3, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28865962/maternal-trans-general-analysis-of-the-human-mitochondrial-dna-pattern
#6
Xiao Han, Zitong Zhao, Minjie Zhang, Guochao Li, Caiyun Yang, Fengxia Du, Junyun Wang, Yan Zhang, Yuanyuan Wang, Yongsheng Jia, Binghui Li, Yingli Sun
There is an intimate connection between mitochondrial DNA (mtDNA) methylation and some diseases, such as cancer. MtDNA is almost strictly maternally inherited. However, whether the aberrant mtDNA methylation involved in breast cancer progression and whether mtDNA methylation can be transmitted through maternal line are poorly understood. Here we applied bisulfite sequencing to global mitochondrial DNA and whole genomic DNA methylation array from fifteen members of five three-female-generation families with one breast cancer patient in each family...
August 30, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28864016/effects-of-maternal-diabetes-and-fetal-sex-on-human-placenta-mitochondrial-biogenesis
#7
Shaoning Jiang, April M Teague, Jeanie B Tryggestad, Christopher E Aston, Timothy Lyons, Steven D Chernausek
Abnormal placental function in maternal diabetes affects fetal health and can predispose offspring to metabolic diseases in later life. There are fetal sex-specific differences in placenta structure and gene expression, which may affect placental responses to maternal diabetes. The present study examined the effects of maternal diabetes on indices of mitochondrial biogenesis in placentae from male and female offspring. Mitochondrial DNA (mtDNA) copy number and expression of key regulators of mitochondrial biogenesis were assessed in placentae from 19 diabetic and 23 non-diabetic women...
September 2017: Placenta
https://www.readbyqxmd.com/read/28854627/the-mitonuclear-dimension-of-neanderthal-and-denisovan-ancestry-in-modern-human-genomes
#8
Joel Sharbrough, Justin C Havird, Gregory R Noe, Jessica M Warren, Daniel B Sloan
Some human populations interbred with Neanderthals and Denisovans, resulting in substantial contributions to modern-human genomes. Therefore, it is now possible to use genomic data to investigate mechanisms that shaped historical gene flow between humans and our closest hominin relatives. More generally, in eukaryotes, mitonuclear interactions have been argued to play a disproportionate role in generating reproductive isolation. There is no evidence of mtDNA introgression into modern human populations, which means that all introgressed nuclear alleles from archaic hominins must function on a modern-human mitochondrial background...
June 1, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28853863/nuclear-and-mitochondrial-dna-methylation-patterns-induced-by-valproic-acid-in-human-hepatocytes
#9
Jarno E J Wolters, Simone G J van Breda, Florian Caiment, Sandra M Claessen, Theo M C M de Kok, Jos C S Kleinjans
Valproic acid (VPA) is one of the most widely prescribed antiepileptic drugs in the world. Despite its pharmacological importance, it may cause liver toxicity and steatosis through mitochondrial dysfunction. The aim of this study is to further investigate VPA-induced mechanisms of steatosis by analyzing changes in patterns of methylation in nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Therefore, primary human hepatocytes (PHHs) were exposed to an incubation concentration of VPA that was shown to cause steatosis without inducing overt cytotoxicity...
September 13, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28852095/amyloid-precursor-protein-drives-down-regulation-of-mitochondrial-oxidative-phosphorylation-independent-of-amyloid-beta
#10
M Isabel G Lopez Sanchez, Hayley S Waugh, Andrew Tsatsanis, Bruce X Wong, Jonathan G Crowston, James A Duce, Ian A Trounce
Amyloid precursor protein (APP) and its extracellular domain, soluble APP alpha (sAPPα) play important physiological and neuroprotective roles. However, rare forms of familial Alzheimer's disease are associated with mutations in APP that increase toxic amyloidogenic cleavage of APP and produce amyloid beta (Aβ) at the expense of sAPPα and other non-amyloidogenic fragments. Although mitochondrial dysfunction has become an established hallmark of neurotoxicity, the link between Aβ and mitochondrial function is unclear...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28838744/mitochondrial-dna-analysis-of-tunisians-reveals-a-mosaic-genetic-structure-with-recent-population-expansion
#11
S Frigi, L Mota-Vieira, L Cherni, M van Oven, R Pires, S Boussetta, A Ben Ammar El-Gaaied
Tunisia is a country of great interest for human population genetics due to its strategic geographic position and rich human settlement history. These factors significantly contributed to the genetic makeup of present-day Tunisians harbouring components of diverse geographic origins. Here, we investigated the genetic structure of Tunisians by performing a mitochondrial DNA (mtDNA) comparison of 15 Tunisian population groups, in order to explore their complex genetic landscape. All Tunisian data were also analysed against 40 worldwide populations...
May 19, 2017: Homo: Internationale Zeitschrift Für die Vergleichende Forschung Am Menschen
https://www.readbyqxmd.com/read/28832570/accurate-and-comprehensive-analysis-of-single-nucleotide-variants-and-large-deletions-of-the-human-mitochondrial-genome-in-dna-and-single-cells
#12
Filippo Zambelli, Kim Vancampenhout, Dorien Daneels, Daniel Brown, Joke Mertens, Sonia Van Dooren, Ben Caljon, Luca Gianaroli, Karen Sermon, Thierry Voet, Sara Seneca, Claudia Spits
Massive parallel sequencing (MPS) can accurately quantify mitochondrial DNA (mtDNA) single nucleotide variants (SNVs), but no MPS methods are currently validated to simultaneously and accurately establish the breakpoints and frequency of large deletions at low heteroplasmic loads. Here we present the thorough validation of an MPS protocol to quantify the load of very low frequency, large mtDNA deletions in bulk DNA and single cells, along with SNV calling by standard methods. We used a set of well-characterized DNA samples, DNA mixes and single cells to thoroughly control the study...
August 23, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28821289/transcriptome-wide-analyses-indicate-mitochondrial-responses-to-particulate-air-pollution-exposure
#13
Ellen Winckelmans, Tim S Nawrot, Maria Tsamou, Elly Den Hond, Willy Baeyens, Jos Kleinjans, Wouter Lefebvre, Nicolas Van Larebeke, Martien Peusens, Michelle Plusquin, Hans Reynders, Greet Schoeters, Charlotte Vanpoucke, Theo M de Kok, Karen Vrijens
BACKGROUND: Due to their lack of repair capacity mitochondria are critical targets for environmental toxicants. We studied genes and pathways reflecting mitochondrial responses to short- and medium-term PM10 exposure. METHODS: Whole genome gene expression was measured in peripheral blood of 98 adults (49% women). We performed linear regression analyses stratified by sex and adjusted for individual and temporal characteristics to investigate alterations in gene expression induced by short-term (week before blood sampling) and medium-term (month before blood sampling) PM10 exposure...
August 18, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28821228/sg-adviser-mtdna-a-web-server-for-mitochondrial-dna-annotation-with-data-from-200-samples-of-a-healthy-aging-cohort
#14
Manuel Rueda, Ali Torkamani
BACKGROUND: Whole genome and exome sequencing usually include reads containing mitochondrial DNA (mtDNA). Yet, state-of-the-art pipelines and services for human nuclear genome variant calling and annotation do not handle mitochondrial genome data appropriately. As a consequence, any researcher desiring to add mtDNA variant analysis to their investigations is forced to explore the literature for mtDNA pipelines, evaluate them, and implement their own instance of the desired tool. This task is far from trivial, and can be prohibitive for non-bioinformaticians...
August 18, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28819942/study-of-the-relationship-between-ages-and-oxidative-stress-damage-to-trophoblast-cell-mitochondria
#15
Lingling Jiang, Jianying Yan, Lixiang Wu
OBJECTIVES: To study the influence of AGEs on placental trophoblast mitochondria oxidative stress, and to explore the possible pathogenesis which may participate in pre-eclampsia. MATERIAL AND METHODS: Human trophoblast cells from early pregnancy were cultured by an enzyme-digestion method. When trophoblast cells reached approximately 70-80% after passages, they were incubated with pre-eclampsia serum for 24 hours. A fluorescent dye assay was applied to measure the mitochondrial membrane potential; ELISA was used to measure the activity of the mitochondrial permeability transition pore...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28814081/monitoring-genetic-population-biomarkers-for-wastewater-based-epidemiology
#16
Zhugen Yang, Gaolian Xu, Julien Reboud, Barbara Kasprzyk-Hordern, Jonathan M Cooper
We report a rapid "sample-to-answer" platform that can be used for the quantitative monitoring of genetic biomarkers within communities through the analysis of wastewater. The assay is based on the loop-mediated isothermal amplification (LAMP) of nucleic acid biomarkers and shows for the first time the ability to rapidly quantify human-specific mitochondrial DNA (mtDNA) from raw untreated wastewater samples. mtDNA provides a model population biomarker associated with carcinogenesis including breast, renal and gastric cancers...
August 29, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28811665/optimization-of-storage-temperature-for-retention-of-undifferentiated-cell-character-of-cultured-human-epidermal-cell-sheets
#17
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
#18
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
#19
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
#20
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
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