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https://www.readbyqxmd.com/read/28230165/mtdna-meta-analysis-reveals-both-phenotype-specificity-and-allele-heterogeneity-a-model-for-differential-association
#1
Shani Marom, Michael Friger, Dan Mishmar
Human mtDNA genetic variants have traditionally been considered markers for ancient population migrations. However, during the past three decades, these variants have been associated with altered susceptibility to various phenotypes, thus supporting their importance for human health. Nevertheless, mtDNA disease association has frequently been supported only in certain populations, due either to population stratification or differential epistatic compensations among populations. To partially overcome these obstacles, we performed meta-analysis of the multiple mtDNA association studies conducted until 2016, encompassing 53,975 patients and 63,323 controls...
February 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28228149/fasciolopsis-buski-digenea-fasciolidae-from-china-and-india-may-represent-distinct-taxa-based-on-mitochondrial-and-nuclear-ribosomal-dna-sequences
#2
Jun Ma, Miao-Miao Sun, Jun-Jun He, Guo-Hua Liu, Lin Ai, Mu-Xin Chen, Xing-Quan Zhu
BACKGROUND: Fasciolopsis buski is a zoonotic intestinal fluke infecting humans and pigs, but it has been seriously neglected. It is yet to know whether there is any genetic diversity among F. buski from different geographical locations, particularly in sequences of nuclear ribosomal DNA (rDNA) and mitochondrial (mt) DNA. Therefore, we determined the sequences of partial 18S, the complete internal transcribed spacer (ITS) rDNA and the complete mt genome of F. buski from China, compared the rDNA and mtDNA sequences with those of isolates from India and Vietnam, and assessed the phylogenetic relationships of this fluke and related fasciolid trematodes based on the mtDNA dataset...
February 22, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28216385/the-role-of-mitochondria-in-cardiac-development-and-protection
#3
REVIEW
Jaakko L Pohjoismäki, Steffi Goffart
Mitochondria are essential for the development as well as maintenance of the myocardium, the most energy consuming tissue in the human body. Mitochondria are not only a source of ATP energy but also generators of reactive oxygen species (ROS), that cause oxidative damage, but also regulate physiological processes such as the switch from hyperplastic to hypertrophic growth after birth. As excess ROS production and oxidative damage are associated with cardiac pathology, it is not surprising that much of the research focused on the deleterious aspects of free radicals...
February 16, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28207748/nucleotide-pools-dictate-the-identity-and-frequency-of-ribonucleotide-incorporation-in-mitochondrial-dna
#4
Anna-Karin Berglund, Clara Navarrete, Martin K M Engqvist, Emily Hoberg, Zsolt Szilagyi, Robert W Taylor, Claes M Gustafsson, Maria Falkenberg, Anders R Clausen
Previous work has demonstrated the presence of ribonucleotides in human mitochondrial DNA (mtDNA) and in the present study we use a genome-wide approach to precisely map the location of these. We find that ribonucleotides are distributed evenly between the heavy- and light-strand of mtDNA. The relative levels of incorporated ribonucleotides reflect that DNA polymerase γ discriminates the four ribonucleotides differentially during DNA synthesis. The observed pattern is also dependent on the mitochondrial deoxyribonucleotide (dNTP) pools and disease-causing mutations that change these pools alter both the absolute and relative levels of incorporated ribonucleotides...
February 16, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28199844/mr-1s-interacts-with-pet100-and-pet117-in-module-based-assembly-of-human-cytochrome-c-oxidase
#5
Sara Vidoni, Michael E Harbour, Sergio Guerrero-Castillo, Alba Signes, Shujing Ding, Ian M Fearnley, Robert W Taylor, Valeria Tiranti, Susanne Arnold, Erika Fernandez-Vizarra, Massimo Zeviani
The biogenesis of human cytochrome c oxidase (COX) is an intricate process in which three mitochondrial DNA (mtDNA)-encoded core subunits are assembled in a coordinated way with at least 11 nucleus-encoded subunits. Many chaperones shared between yeast and humans are involved in COX assembly. Here, we have used a MT-CO3 mutant cybrid cell line to define the composition of assembly intermediates and identify new human COX assembly factors. Quantitative mass spectrometry analysis led us to modify the assembly model from a sequential pathway to a module-based process...
February 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/28178941/implications-of-human-evolution-and-admixture-for-mitochondrial-replacement-therapy
#6
Lavanya Rishishwar, I King Jordan
BACKGROUND: Mitochondrial replacement (MR) therapy is a new assisted reproductive technology that allows women with mitochondrial disorders to give birth to healthy children by combining their nuclei with mitochondria from unaffected egg donors. Evolutionary biologists have raised concerns about the safety of MR therapy based on the extent to which nuclear and mitochondrial genomes are observed to co-evolve within natural populations, i.e. the nuclear-mitochondrial mismatch hypothesis...
February 8, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28177758/differential-effect-of-hypoxia-and-acidity-on-lung-cancer-cell-and-fibroblast-metabolism
#7
Alexandra Giatromanolaki, Maria Liousia, Stella Arelaki, Dimitra Kalamida, Stamatia Pouliliou, Axilleas Mitrakas, Avgi Tsolou, Efthimios Sivridis, Michael I Koukourakis
This study examined the metabolic response of lung cancer cells and normal lung fibroblasts to hypoxia and acidity. GLUT1 and HXKII mRNA/protein expression was up-regulated under hypoxia in the MRC5 fibroblasts and in the A549 and H1299 lung cancer cell lines, indicating intensified glucose absorption and glycolysis. Under hypoxia, the LDHA mRNA and LDH5 protein levels increased in the cancer cells but not in the fibroblasts. Acidity suppressed the above mentioned hypoxia effect. PDH-kinase-1 (PDK1 mRNA and protein) and inactive phosphorylated-PDH protein levels were induced under hypoxia in the cancer cells, whilst these were reduced in the MRC5 lung fibroblasts...
January 24, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/28158897/sex-specific-genetic-diversity-is-shaped-by-cultural-factors-in-inner-asian-human-populations
#8
Nina Marchi, Tatyana Hegay, Philippe Mennecier, Myriam Georges, Romain Laurent, Mark Whitten, Philipp Endicott, Almaz Aldashev, Choduraa Dorzhu, Firuza Nasyrova, Boris Chichlo, Laure Ségurel, Evelyne Heyer
OBJECTIVES: Sex-specific genetic structures have been previously documented worldwide in humans, even though causal factors have not always clearly been identified. In this study, we investigated the impact of ethnicity, geography and social organization on the sex-specific genetic structure in Inner Asia. Furthermore, we explored the process of ethnogenesis in multiple ethnic groups. METHODS: We sampled DNA in Central and Northern Asia from 39 populations of Indo-Iranian and Turkic-Mongolic native speakers...
February 3, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28158188/dna-multigene-characterization-of-fasciola-hepatica-and-lymnaea-neotropica-and-its-fascioliasis-transmission-capacity-in-uruguay-with-historical-correlation-human-report-review-and-infection-risk-analysis
#9
María Dolores Bargues, Valeria Gayo, Jaime Sanchis, Patricio Artigas, Messaoud Khoubbane, Soledad Birriel, Santiago Mas-Coma
BACKGROUND: Fascioliasis is a pathogenic disease transmitted by lymnaeid snails and recently emerging in humans, in part due to effects of climate changes, anthropogenic environment modifications, import/export and movements of livestock. South America is the continent presenting more human fascioliasis hyperendemic areas and the highest prevalences and intensities known. These scenarios appear mainly linked to altitude areas in Andean countries, whereas lowland areas of non-Andean countries, such as Uruguay, only show sporadic human cases or outbreaks...
February 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28154168/synergistic-effects-of-the-in-cis-t251i-and-p587l-mitochondrial-dna-polymerase-%C3%AE-disease-mutations
#10
Karen L DeBalsi, Matthew J Longley, Kirsten E Hoff, William C Copeland
Human mitochondrial DNA (mtDNA) polymerase gamma (Pol γ) is the only polymerase known to replicate the mitochondrial genome. The Pol γ holoenzyme consists of the p140 catalytic subunit (POLG) and the p55 homodimeric accessory subunit (POLG2), which enhances binding of Pol γ to DNA and promotes processivity of the holoenzyme. Mutations within POLG impede maintenance of mtDNA and cause mitochondrial diseases. Two common POLG mutations usually found in cis in patients primarily with progressive external ophthalmoplegia (PEO) generate T251I and P587L amino acid substitutions...
February 2, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28153046/mitochondrial-dna-point-mutations-and-relative-copy-number-in-1363-disease-and-control-human-brains
#11
Wei Wei, Michael J Keogh, Ian Wilson, Jonathan Coxhead, Sarah Ryan, Sara Rollinson, Helen Griffin, Marzena Kurzawa-Akinibi, Mauro Santibanez-Koref, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Christopher M Morris, Olaf Ansorge, Stuart Pickering-Brown, James W Ironside, Patrick F Chinnery
Mitochondria play a key role in common neurodegenerative diseases and contain their own genome: mtDNA. Common inherited polymorphic variants of mtDNA have been associated with several neurodegenerative diseases, and somatic deletions of mtDNA have been found in affected brain regions. However, there are conflicting reports describing the role of rare inherited variants and somatic point mutations in neurodegenerative disorders, and recent evidence also implicates mtDNA levels. To address these issues we studied 1363 post mortem human brains with a histopathological diagnosis of Parkinson's disease (PD), Alzheimer's disease (AD), Frontotemporal dementia - Amyotrophic Lateral Sclerosis (FTD-ALS), Creutzfeldt Jacob disease (CJD), and healthy controls...
February 2, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28148921/subdivisions-of-haplogroups-u-and-c-encompass-mitochondrial-dna-lineages-of-eneolithic-early-bronze-age-kurgan-populations-of-western-north-pontic-steppe
#12
Alexey G Nikitin, Svetlana Ivanova, Dmytro Kiosak, Jessica Badgerow, Jeff Pashnick
Prehistoric Europe experienced a marked cultural and economic shift around 4000 years ago, when the established Neolithic agriculture-based economy was replaced by herding-pastoralist industry. In recent years new data about the genetic structure of human communities living during this transition period began to emerge. At the same time, the genetic identities of the Eneolithic and Early Bronze Age (EBA) inhabitants from a prehistoric cultural crossroad in western North Pontic steppe region remain understudied...
February 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28139940/mitochondrial-dna-control-region-sequences-may-differentiate-yanbian-koreans-in-china-from-other-asian-populations
#13
Xiao-Na Li, Ji-Long Zheng, Jun Yao, Yue Dong, Zhang-Sen Shi, Bao-Jie Wang
BACKGROUND: Sequence polymorphisms of mitochondrial DNA (mtDNA) are valuable in forensic medicine and anthropological genetics. AIM: We investigated the mtDNA control region sequences in 295 unrelated individuals living in the Yanbian Korean Autonomous Prefecture in the People's Republic of China. SUBJECTS AND METHODS: DNA was extracted from blood stained filter papers. Hypervariable regions of the mtDNA control region (HVI and HVII) were amplified and sequenced...
January 31, 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/28139037/mtdna-metagenomics-reveals-large-scale-invasion-of-belowground-arthropod-communities-by-introduced-species
#14
Francesco Cicconardi, Paulo A V Borges, Dominique Strasberg, Pedro Oromí, Heriberto López, Antonio J Pérez-Delgado, Juliane Casquet, Juli Caujapé-Castells, José María Fernández-Palacios, Christophe Thébaud, Brent C Emerson
Using a series of standardised sampling plots within forest ecosystems in remote oceanic islands, we reveal fundamental differences between the structuring of aboveground and belowground arthropod biodiversity that are likely due to large-scale species introductions by humans. Species of beetle and spider were sampled almost exclusively from single islands, while soil dwelling Collembola exhibited more than tenfold higher species sharing among islands. Comparison of Collembola mitochondrial metagenomic data to a database of more than 80,000 Collembola barcode sequences revealed almost 30% of sampled island species are genetically identical, or near identical, to individuals sampled from often very distant geographic regions of the world...
January 31, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28133770/in-vitro-antioxidant-effect-of-curcumin-on-human-sperm-quality-in-leucocytospermia
#15
L Zhang, R Y Diao, Y G Duan, T H Yi, Z M Cai
Decreased sperm quality was caused by oxidative stress in semen from patients with leucocytospermia. Curcumin is a traditional Chinese herbal monomer extracted from Zingiberaceae turmeric and zedoary turmeric and has antioxidative and anti-inflammatory effects. This study aimed to investigate the effects and specific molecular mechanisms of curcumin on sperm quality in patients diagnosed with leucocytospermia. Forty cases of semen samples were collected from patients with leucocytospermia and 35 cases from normal fertile male...
January 30, 2017: Andrologia
https://www.readbyqxmd.com/read/28132834/human-ipsc-derived-neural-progenitors-are-an-effective-drug-discovery-model-for-neurological-mtdna-disorders
#16
Carmen Lorenz, Pierre Lesimple, Raul Bukowiecki, Annika Zink, Gizem Inak, Barbara Mlody, Manvendra Singh, Marcus Semtner, Nancy Mah, Karine Auré, Megan Leong, Oleksandr Zabiegalov, Ekaterini-Maria Lyras, Vanessa Pfiffer, Beatrix Fauler, Jenny Eichhorst, Burkhard Wiesner, Norbert Huebner, Josef Priller, Thorsten Mielke, David Meierhofer, Zsuzsanna Izsvák, Jochen C Meier, Frédéric Bouillaud, James Adjaye, Markus Schuelke, Erich E Wanker, Anne Lombès, Alessandro Prigione
Mitochondrial DNA (mtDNA) mutations frequently cause neurological diseases. Modeling of these defects has been difficult because of the challenges associated with engineering mtDNA. We show here that neural progenitor cells (NPCs) derived from human induced pluripotent stem cells (iPSCs) retain the parental mtDNA profile and exhibit a metabolic switch toward oxidative phosphorylation. NPCs derived in this way from patients carrying a deleterious homoplasmic mutation in the mitochondrial gene MT-ATP6 (m.9185T>C) showed defective ATP production and abnormally high mitochondrial membrane potential (MMP), plus altered calcium homeostasis, which represents a potential cause of neural impairment...
January 25, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28131805/tenofovir-alafenamide-taf-does-not-deplete-mitochondrial-dna-in-human-t-cell-lines-at-intracellular-concentrations-exceeding-clinically-relevant-drug-exposures
#17
Kirsten M Stray, Yeojin Park, Darius Babusis, Christian Callebaut, Tomas Cihlar, Adrian S Ray, Michel Perron
HIV-infected patients treated with certain nucleoside reverse transcriptase inhibitors (NRTIs) have experienced adverse effects due to drug-related mitochondrial toxicity. Tenofovir alafenamide (TAF) is a novel prodrug of the NRTI tenofovir (TFV) with an improved safety profile compared to tenofovir disoproxil fumarate (TDF). Prior in vitro studies have demonstrated that the parent nucleotide TFV has no significant effects on mtDNA synthesis. This study investigated whether clinically relevant TAF and TDF exposures affect mtDNA content in human lymphocytes...
January 26, 2017: Antiviral Research
https://www.readbyqxmd.com/read/28129728/population-structure-and-genetic-diversity-of-sinibrama-macrops-from-ou-river-and-ling-river-based-on-mtdna-d-loop-region-analysis-china
#18
Liangjie Zhao, Erica L Chenoweth, Qigen Liu
In order to understand the influence of human activities such as habitat fragmentation on freshwater fish population evolution, we investigated and compared the genetic diversity and phylogeography of Sinibrama macrops populations in the Oujiang River and Ling River. Mitochondrial control region sequences (D-loop region) of 131 specimens from six populations were obtained and analyzed. The diversity of main stream in the Ou River was lower than that in Ling River. Changtan population showed the lowest diversity (H = 0...
January 27, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28121389/understanding-influences-of-culture-and-history-on-mtdna-variation-and-population-structure-in-three-populations-from-assam-northeast-india
#19
Peter H Rej, Ranjan Deka, Heather L Norton
OBJECTIVES: Positioned at the nexus of India, China, and Southeast Asia, Northeast India is presumed to have served as a channel for land-based human migration since the Upper Pleistocene. Assam is the largest state in the Northeast. We characterized the genetic background of three populations and examined the ways in which their population histories and cultural practices have influenced levels of intrasample and intersample variation. METHODS: We examined sequence data from the mtDNA hypervariable control region and selected diagnostic mutations from the coding region in 128 individuals from three ethnic groups currently living in Assam: two Scheduled tribes (Sonowal Kachari and Rabha), and the non-Scheduled Tai Ahom...
January 25, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28120839/signatures-of-human-european-palaeolithic-expansion-shown-by-resequencing-of-non-recombining-x-chromosome-segments
#20
Pierpaolo Maisano Delser, Rita Neumann, Stéphane Ballereau, Pille Hallast, Chiara Batini, Daniel Zadik, Mark A Jobling
Human genetic diversity in Europe has been extensively studied using uniparentally inherited sequences (mitochondrial DNA (mtDNA) and the Y chromosome), which reveal very different patterns indicating sex-specific demographic histories. The X chromosome, haploid in males and inherited twice as often from mothers as from fathers, could provide insights into past female behaviours, but has not been extensively investigated. Here, we use HapMap single-nucleotide polymorphism data to identify genome-wide segments of the X chromosome in which recombination is historically absent and mutations are likely to be the only source of genetic variation, referring to these as phylogeographically informative haplotypes on autosomes and X chromosome (PHAXs)...
January 25, 2017: European Journal of Human Genetics: EJHG
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