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https://www.readbyqxmd.com/read/29345305/detection-of-mitochondrial-haplogroups-in-a-small-avar-slavic-population-from-the-eigth-ninth-century-ad
#1
Lukáš Šebest, Marian Baldovič, Adam Frtús, Csaba Bognár, Klaudia Kyselicová, Ľudevít Kádasi, Radoslav Beňuš
OBJECTIVES: In the sixth century AD, Avars came to Central Europe from middle Eurasian steppes and founded a strong Empire called the Avar Khagante (568-799/803 AD) in the Pannonian basin. During the existence of this empire, they undertook many military and pugnacious campaigns. In the seventh century, they conquered the northern territory inhabited by Slavs, who were further recruited in Avar military and were commissioned with obtaining food supplies. During almost 200 years of Avar domination, a significant influence by the Avar culture (especially on the burial rite) and assimilation with indigenous population (occurrence of "East Asian"cranial features) could be noticed in this mixed area, which is supported by achaeological and anthropologcal research...
January 18, 2018: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/29344968/a-novel-nested-polymerase-chain-reaction-assay-targeting-plasmodium-mitochondrial-dna-in-field-collected-anopheles-mosquitoes
#2
M Calzetta, E Perugini, G Seixas, C A Sousa, W M Guelbeogo, N Sagnon, A Della Torre, J Pinto, M Pombi, E Mancini
Sensitive techniques for the detection of Plasmodium (Aconoidasida: Plasmodiidae) sporozoites in field-collected malaria vectors are essential for the correct assessment of risk for malaria transmission. A real-time polymerase chain reaction (RT-PCR) protocol targeting Plasmodium mtDNA proved to be much more sensitive in detecting sporozoites in mosquitoes than the widely used enzyme-linked immunosorbent assay targeting Plasmodium circumsporozoite protein (CSP-ELISA). However, because of the relatively high costs associated with equipment and reagents, RT-PCRs are mostly used to assess the outcomes of experimental infections in the frame of research experiments, rather than in routine monitoring of mosquito infection in the field...
January 18, 2018: Medical and Veterinary Entomology
https://www.readbyqxmd.com/read/29339192/tissue-specific-differences-in-mitochondrial-dna-maintenance-and-expression
#3
Elena Herbers, Nina J Kekäläinen, Anu Hangas, Jaakko L Pohjoismäki, Steffi Goffart
The different cell types of multicellular organisms have specialized physiological requirements, affecting also their mitochondrial energy production and metabolism. The genome of mitochondria is essential for mitochondrial oxidative phosphorylation (OXHPOS) and thus plays a central role in many human mitochondrial pathologies. Disorders affecting mitochondrial DNA (mtDNA) maintenance are typically resulting in a tissue-specific pattern of mtDNA deletions and rearrangements. Despite this role in disease as well as a biomarker of mitochondrial biogenesis, the tissue-specific parameters of mitochondrial DNA maintenance have been virtually unexplored...
January 12, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29335530/segregation-of-mitochondrial-dna-heteroplasmy-through-a-developmental-genetic-bottleneck-in-human-embryos
#4
Vasileios I Floros, Angela Pyle, Sabine Dietmann, Wei Wei, Walfred W C Tang, Naoko Irie, Brendan Payne, Antonio Capalbo, Laila Noli, Jonathan Coxhead, Gavin Hudson, Moira Crosier, Henrik Strahl, Yacoub Khalaf, Mitinori Saitou, Dusko Ilic, M Azim Surani, Patrick F Chinnery
Mitochondrial DNA (mtDNA) mutations cause inherited diseases and are implicated in the pathogenesis of common late-onset disorders, but how they arise is not clear1,2. Here we show that mtDNA mutations are present in primordial germ cells (PGCs) within healthy female human embryos. Isolated PGCs have a profound reduction in mtDNA content, with discrete mitochondria containing ~5 mtDNA molecules. Single-cell deep mtDNA sequencing of in vivo human female PGCs showed rare variants reaching higher heteroplasmy levels in late PGCs, consistent with the observed genetic bottleneck...
January 15, 2018: Nature Cell Biology
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#5
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29330893/mitogenomic-differences-between-the-normal-and-tumour-cells-of-colorectal-cancer-patients
#6
Katarzyna Skonieczna, Boris Malyarchuk, Arkadiusz Jawień, Andrzej Marszałek, Zbigniew Banaszkiewicz, Paweł Jarmocik, Tomasz Grzybowski
So far, a reliable spectrum of mitochondrial DNA mutations in colorectal cancer cells is still unknown, and neither is their significance in carcinogenesis. Indeed, it remains debatable whether mtDNA mutations are "drivers" or "passengers" of colorectal carcinogenesis. Thus, we analyzed 200 mitogenomes from normal and cancer tissues of 100 colorectal cancer patients. Minority variant mutations were detected at the 1% level. We showed that somatic mutations frequently occur in colorectal cancer cells (75%) and are randomly distributed across the mitochondrial genome...
January 12, 2018: Human Mutation
https://www.readbyqxmd.com/read/29323231/mice-deficient-in-the-shmt2-gene-have-mitochondrial-respiration-defects-and-are-embryonic-lethal
#7
Haruna Tani, Sakiko Ohnishi, Hiroshi Shitara, Takayuki Mito, Midori Yamaguchi, Hiromichi Yonekawa, Osamu Hashizume, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi
Accumulation of somatic mutations in mitochondrial DNA (mtDNA) has been proposed to be responsible for human aging and age-associated mitochondrial respiration defects. However, our previous findings suggested an alternative hypothesis of human aging-that epigenetic changes but not mutations regulate age-associated mitochondrial respiration defects, and that epigenetic downregulation of nuclear-coded genes responsible for mitochondrial translation [e.g., glycine C-acetyltransferase (GCAT), serine hydroxymethyltransferase 2 (SHMT2)] is related to age-associated respiration defects...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29318513/targeted-elimination-of-mutant-mitochondrial-dna-in-melas-ipscs-by-mitotalens
#8
Yi Yang, Han Wu, Xiangjin Kang, Yanhui Liang, Ting Lan, Tianjie Li, Tao Tan, Jiangyun Peng, Quanjun Zhang, Geng An, Yali Liu, Qian Yu, Zhenglai Ma, Ying Lian, Boon Seng Soh, Qingfeng Chen, Ping Liu, Yaoyong Chen, Xiaofang Sun, Rong Li, Xiumei Zhen, Ping Liu, Yang Yu, Xiaoping Li, Yong Fan
Mitochondrial diseases are maternally inherited heterogeneous disorders that are primarily caused by mitochondrial DNA (mtDNA) mutations. Depending on the ratio of mutant to wild-type mtDNA, known as heteroplasmy, mitochondrial defects can result in a wide spectrum of clinical manifestations. Mitochondria-targeted endonucleases provide an alternative avenue for treating mitochondrial disorders via targeted destruction of the mutant mtDNA and induction of heteroplasmic shifting. Here, we generated mitochondrial disease patient-specific induced pluripotent stem cells (MiPSCs) that harbored a high proportion of m...
January 9, 2018: Protein & Cell
https://www.readbyqxmd.com/read/29317705/pneumolysin-induced-mitochondrial-dysfunction-leads-to-release-of-mitochondrial-dna
#9
Andreas Nerlich, Maren Mieth, Eleftheria Letsiou, Diana Fatykhova, Katja Zscheppang, Aki Imai-Matsushima, Thomas F Meyer, Lisa Paasch, Timothy J Mitchell, Mario Tönnies, Torsten T Bauer, Paul Schneider, Jens Neudecker, Jens C Rückert, Stephan Eggeling, Maria Schimek, Martin Witzenrath, Norbert Suttorp, Stefan Hippenstiel, Andreas C Hocke
Streptococcus pneumoniae (S.pn.) is the most common bacterial pathogen causing community acquired pneumonia. The pore-forming toxin pneumolysin (PLY) is the major virulence factor of S.pn. and supposed to affect alveolar epithelial cells thereby activating the immune system by liberation of danger-associated molecular patterns (DAMP). To test this hypothesis, we established a novel live-cell imaging based assay to analyse mitochondrial function and associated release of mitochondrial DNA (mtDNA) as DAMP in real-time...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29298131/a-systematic-review-of-p53-regulation-of-oxidative-stress-in-skeletal-muscle
#10
Kaitlyn Beyfuss, David A Hood
BACKGROUND: p53 is a tumor suppressor protein involved in regulating a wide array of signaling pathways. The role of p53 in the cell is determined by the type of imposed oxidative stress, its intensity and duration. The last decade of research has unravelled a dual nature in the function of p53 in mediating the oxidative stress burden. However, this is dependent on the specific properties of the applied stress and thus requires further analysis. METHODS: A systematic review was performed following an electronic search of Pubmed, Google Scholar, and ScienceDirect databases...
January 3, 2018: Redox Report: Communications in Free Radical Research
https://www.readbyqxmd.com/read/29295921/lymphocytes-eject-interferogenic-mitochondrial-dna-webs-in-response-to-cpg-and-non-cpg-oligodeoxynucleotides-of-class-c
#11
Björn Ingelsson, Daniel Söderberg, Tobias Strid, Anita Söderberg, Ann-Charlotte Bergh, Vesa Loitto, Kourosh Lotfi, Mårten Segelmark, Giannis Spyrou, Anders Rosén
Circulating mitochondrial DNA (mtDNA) is receiving increasing attention as a danger-associated molecular pattern in conditions such as autoimmunity, cancer, and trauma. We report here that human lymphocytes [B cells, T cells, natural killer (NK) cells], monocytes, and neutrophils derived from healthy blood donors, as well as B cells from chronic lymphocytic leukemia patients, rapidly eject mtDNA as web filament structures upon recognition of CpG and non-CpG oligodeoxynucleotides of class C. The release was quenched by ZnCl2, independent of cell death (apoptosis, necrosis, necroptosis, autophagy), and continued in the presence of TLR9 signaling inhibitors...
January 2, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29290614/topoisomerase-3%C3%AE-is-required-for-decatenation-and-segregation-of-human-mtdna
#12
Thomas J Nicholls, Cristina A Nadalutti, Elisa Motori, Ewen W Sommerville, Gráinne S Gorman, Swaraj Basu, Emily Hoberg, Doug M Turnbull, Patrick F Chinnery, Nils-Göran Larsson, Erik Larsson, Maria Falkenberg, Robert W Taylor, Jack D Griffith, Claes M Gustafsson
How mtDNA replication is terminated and the newly formed genomes are separated remain unknown. We here demonstrate that the mitochondrial isoform of topoisomerase 3α (Top3α) fulfills this function, acting independently of its nuclear role as a component of the Holliday junction-resolving BLM-Top3α-RMI1-RMI2 (BTR) complex. Our data indicate that mtDNA replication termination occurs via a hemicatenane formed at the origin of H-strand replication and that Top3α is essential for resolving this structure. Decatenation is a prerequisite for separation of the segregating unit of mtDNA, the nucleoid, within the mitochondrial network...
December 14, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29281717/genetic-origin-of-goat-populations-in-oman-revealed-by-mitochondrial-dna-analysis
#13
Nasser Ali Al-Araimi, Osman Mahgoub Gaafar, Vânia Costa, Agusto Luzuriaga Neira, Raed Mahmoud Al-Atiyat, Albano Beja-Pereira
The Sultanate of Oman has a complex mosaic of livestock species and production systems, but the genetic diversity, demographic history or origins of these Omani animals has not been expensively studied. Goats might constitute one of the most abundant and important domestic livestock species since the Neolithic transition. Here, we examined the genetic diversity, origin, population structure and demographic history of Omani goats. Specifically, we analyzed a 525-bp fragment of the first hypervariable region of the mitochondrial DNA (mtDNA) control region from 69 Omani individuals and compared this fragment with 17 mtDNA sequences from Somalia and Yemen as well as 18 wild goat species and 1,198 previously published goat sequences from neighboring countries...
2017: PloS One
https://www.readbyqxmd.com/read/29279091/molecular-genotyping-of-echinococcus-granulosus-in-the-north-of-iraq
#14
Salam Jumaah Hammad, Serena Cavallero, Giovanni Luigi Milardi, Simona Gabrielli, Stefano D Amelio, Fatima Shihab Al-Nasiri
Cystic echinococcosis/hydatidosis is an important cosmopolitan zoonotic disease that causes large economic losses and human suffering. The larval stages of Echinococcus granulosus are the etiological agents of cystic echinococcosis that showed different genotypes in different regions in the world. The present study was aimed at the detection of E. granulosus strains circulating in two cities from north of Iraq (Kirkuk and Sulaimania). A total of 47 specimens of hydatid cysts were collected from patients and from different domestic intermediate hosts including cattle, sheep, goat and buffalo from slaughterhouses...
January 15, 2018: Veterinary Parasitology
https://www.readbyqxmd.com/read/29277002/distribution-of-anisakid-nematodes-parasitizing-rajiform-skates-under-commercial-exploitation-in-the-southwestern-atlantic
#15
Manuel Marcial Irigoitia, Paola Elizabeth Braicovich, Ana Laura Lanfranchi, Marisa Diana Farber, Juan Tomás Timi
In order to evaluate the infestation by anisakids present in elasmobranchs and their distribution in the Argentine Sea, this study was carried at a regional scale with the following aims: 1) to identify those anisakid species present in skates under exploitation; 2) to characterize quantitatively these infestations and 3) to determine those factors driving the variability in parasite burdens across skate species. A total of 351 skates, belonging to 3 species (218 Sympterygia bonapartii, 86 Zearaja chilensis and 47 Atlantoraja castelnaui) and from different localities of the Argentine Sea were examined for anisakids...
December 19, 2017: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/29259620/hla-dr-genotyping-and-mitochondrial-dna-analysis-reveal-the-presence-of-family-burials-in-a-fourth-century-romano-british-christian-cemetery
#16
Canh P Voong, Patrick S Spencer, Cristina V Navarrete, David Turner, Soren B Hayrabedyan, Philip Crummy, Emma Holloway, Mike T Wilson, Patricia R Smith, Nelson Fernández
In Colchester, Britain's oldest recorded town, during the Roman period there were areas which were clearly used solely as cemeteries. One of the most significant is at Butt Road, which includes a late Roman probable Christian cemetery with an associated building, apparently a church, that overlies and developed from a pagan inhumation cemetery. DNA was extracted from the long bones (femurs) of 29 individuals, mostly from a large complex of burials centered on two timber vaults. These were thought to comprise a number of family groupings, deduced from osteological analysis, stratigraphical and other considerations...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29259235/transcriptomic-analysis-of-mitochondrial-tfam-depletion-changing-cell-morphology-and-proliferation
#17
Woo Rin Lee, Heeju Na, Seon Woo Lee, Won-Jun Lim, Namshin Kim, J Eugene Lee, Changwon Kang
Human mitochondrial transcription factor A (TFAM) has been implicated in promoting tumor growth and invasion. TFAM activates mitochondrial DNA (mtDNA) transcription, and affects nuclear gene expression through mitochondrial retrograde signaling. In this study, we investigated the effects of TFAM depletion on the morphology and transcriptome of MKN45 gastric cancer cells. Morphology alteration became visible at 12 h after TFAM knockdown: the proportion of growth-arrested polygonal cells versus oval-shaped cells increased, reaching a half-maximum at 24 h and a near-maximum at 36 h...
December 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29258787/involvement-of-mitochondrial-haplogroups-in-myocardial-infarction-and-stroke-a-case-control-study-in-castile-and-leon-spain-population
#18
Miriam Umbria, Amanda Ramos, Jennifer Caner, Tomás Vega, José Eugenio Lozano, Cristina Santos, Maria Pilar Aluja
There are strong evidences that common mitochondrial DNA (mtDNA) haplogroups may influence the pathogenesis of cardiovascular diseases (CVDs). In this matched case-control study, we investigate the association between mtDNA haplogroups and two CVDs, myocardial infarction (MI) and stroke, and classical cardiovascular risk factors. Data obtained show that haplogroup H constitute a susceptibility risk factor for MI (p=0.001; OR=2.379, 95% CI [1.440-3.990]). Otherwise, our data also suggest a beneficial role of haplogroup J against hypertension (p=0...
December 16, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29240846/characterization-of-conditions-and-determination-of-practical-tips-for-mtdna-level-estimation-in-various-human-cells
#19
Paulina Jędrak, Natalia Sowa, Sylwia Barańska, Grzegorz Węgrzyn
Determination of mtDNA copy number in the cell is crucial to understand many cellular processes. Recently, the number of studies with the use of mitochondrial DNA (mtDNA) content as the determinant of mitochondrial abnormalities increased greatly and is still growing, therefore, optimization of technical conditions for this analysis is crucial. Despite using similar laboratory protocols, some results cannot be compared between research centers, thus causing discrepancies in the assessment of mtDNA content. The aim of this work was to test which conditions of biological sample collection and storage affect estimation of mtDNA level relative to the nuclear DNA (nDNA) in the blood samples and dermal fibroblasts...
December 15, 2017: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/29240674/evaluation-of-the-cytotoxicity-and-genotoxicity-of-flavonolignans-in-different-cellular-models
#20
Michal Bijak, Ewelina Synowiec, Przemyslaw Sitarek, Tomasz Sliwiński, Joanna Saluk-Bijak
Flavonolignans are the main components of silymarin, which represents 1.5-3% of the dry fruit weight of Milk thistle (Silybum marianum L. Gaernt.). In ancient Greece and Romania, physicians and herbalists used the Silybum marianum to treat a range of liver diseases. Besides their hepatoprotective action, silymarin flavonolignans have many other healthy properties, such as anti-platelet and anti-inflammatory actions. The aim of this study was to evaluate the toxic effect of flavonolignans on blood platelets, peripheral blood mononuclear cells (PBMCs) and human lung cancer cell line-A549-using different molecular techniques...
December 14, 2017: Nutrients
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