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https://www.readbyqxmd.com/read/28724791/mitochondrial-dna-enriched-microparticles-promote-acute-on-chronic-alcoholic-neutrophilia-and-hepatotoxicity
#1
Yan Cai, Ming-Jiang Xu, Erik H Koritzinsky, Zhou Zhou, Wei Wang, Haixia Cao, Peter St Yuen, Ruth A Ross, Robert A Star, Suthat Liangpunsakul, Bin Gao
Over the last several years, one of the major advances in the field of alcoholic liver disease research was the discovery that binge alcohol consumption induced neutrophilia and hepatic neutrophil infiltration in chronically ethanol-fed mice and human subjects with excessive alcohol use (EAU); however, the underlying mechanisms remain obscure. Here, we demonstrated that chronic EAU patients with a history of recent excessive drinking (EAU + RD) had higher serum levels of mitochondrial DNA (mtDNA)-enriched microparticles (MPs) than EAU without recent drinking (EAU - RD) and healthy controls, which correlated positively with circulating neutrophils...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28713989/effects-of-proton-beam-irradiation-on-mitochondrial-biogenesis-in-a-human-colorectal-adenocarcinoma-cell-line
#2
Byung Geun Ha, Sung Suk Jung, Yun Hee Shon
Proton beam therapy has recently been used to improve local control of tumor growth and reduce side-effects by decreasing the global dose to normal tissue. However, the regulatory mechanisms underlying the physiological role of proton beam radiation are not well understood, and many studies are still being conducted regarding these mechanisms. To determine the effects of proton beams on mitochondrial biogenesis, we investigated: mitochondrial DNA (mtDNA) mass; the gene expression of mitochondrial transcription factors, functional regulators, and dynamic-related regulators; and the phosphorylation of the signaling molecules that participate in mitochondrial biogenesis...
July 5, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28702491/data-on-the-time-of-integration-of-the-human-mitochondrial-pseudogenes-numts-into-the-nuclear-genome
#3
Konstantin Gunbin, Leonid Peshkin, Konstantin Popadin, Sofia Annis, Rebecca R Ackermann, Konstantin Khrapko
The data and methods presented in this article are supplementing the research article "Integration of mtDNA pseudogenes into the nuclear genome coincides with speciation of the human genus. A hypothesis", DOI: 10.1016/j.mito.2016.12.001 (Gunbin et al., 2017) [1]. Mitochondrial DNA is known to get inserted into nuclear DNA to form NUMTs, i.e. nuclear DNA pseudogenes of the mtDNA. We present here the sequences of selected NUMTs, in which time of integration can be determined with sufficient precision. We report their chromosomal positions , their position within the great ape mtDNA phylogeny, and their times of integration into the nuclear genome...
August 2017: Data in Brief
https://www.readbyqxmd.com/read/28696810/mitochondrial-dna-variations-are-associated-with-recurrent-pregnancy-loss
#4
Ali Azadi, Dong Joo Seo, Hannaneh Jafari Sasansara, Michael Van Haute
Cases with three or more consecutive spontaneous abortions before the 20th week of gestation are termed as recurrent pregnancy loss (RPL). Problems in implantation of the foetus and any retarded growth of the foetus in the uterus can be correlated to RPL. Possible causes of RPL would include the genetic variations in the regulatory enzymes of the crucial metabolic pathways, clotting factors, hormones and hormone receptors. This defect of the mitochondrial respiratory chain is recognized as a major cause of human disease...
July 11, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28687512/recessive-mutation-in-exosc3-associates-with-mitochondrial-dysfunction-and-pontocerebellar-hypoplasia
#5
Gudrun Schottmann, Sylvie Picker-Minh, Jana Marie Schwarz, Esther Gill, Richard J T Rodenburg, Werner Stenzel, Angela M Kaindl, Markus Schuelke
Recessive mutations in EXOSC3, encoding a subunit of the human RNA exosome complex, cause pontocerebellar hypoplasia type 1b (PCH1B). We report a boy with severe muscular hypotonia, psychomotor retardation, progressive microcephaly, and cerebellar atrophy. Biochemical abnormalities comprised mitochondrial complex I and pyruvate dehydrogenase complex (PDHc) deficiency. Whole exome sequencing uncovered a known EXOSC3 mutation p.(D132A) as the underlying cause. In patient fibroblasts, a large portion of the EXOSC3 protein was trapped in the cytosol...
July 4, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28683077/dna-isolation-protocol-effects-on-nuclear-dna-analysis-by-microarrays-droplet-digital-pcr-and-whole-genome-sequencing-and-on-mitochondrial-dna-copy-number-estimation
#6
Elizabeth Nacheva, Katya Mokretar, Aynur Soenmez, Alan M Pittman, Colin Grace, Roberto Valli, Ayesha Ejaz, Selina Vattathil, Emanuela Maserati, Henry Houlden, Jan-Willem Taanman, Anthony H Schapira, Christos Proukakis
Potential bias introduced during DNA isolation is inadequately explored, although it could have significant impact on downstream analysis. To investigate this in human brain, we isolated DNA from cerebellum and frontal cortex using spin columns under different conditions, and salting-out. We first analysed DNA using array CGH, which revealed a striking wave pattern suggesting primarily GC-rich cerebellar losses, even against matched frontal cortex DNA, with a similar pattern on a SNP array. The aCGH changes varied with the isolation protocol...
2017: PloS One
https://www.readbyqxmd.com/read/28679504/mitochondrial-genome-inheritance-and-replacement-in-the-human-germline
#7
Don P Wolf, Tomonari Hayama, Shoukhrat Mitalipov
Mitochondria, the ubiquitous power packs in nearly every eukaryotic cell, contain their own DNA, known as mtDNA, which is inherited exclusively from the mother. The number of mitochondrial genomes varies depending on the cell's energy needs. The mature oocyte contains the highest number of mitochondria of any cell type, although there is little if any mtDNA replication after fertilization until the embryo implants. This has potential repercussions for mitochondrial replacement therapy (MRT; see description of currently employed methods below) used to prevent the transmission of mtDNA-based disorders...
July 5, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28675384/deeply-divergent-archaic-mitochondrial-genome-provides-lower-time-boundary-for-african-gene-flow-into-neanderthals
#8
Cosimo Posth, Christoph Wißing, Keiko Kitagawa, Luca Pagani, Laura van Holstein, Fernando Racimo, Kurt Wehrberger, Nicholas J Conard, Claus Joachim Kind, Hervé Bocherens, Johannes Krause
Ancient DNA is revealing new insights into the genetic relationship between Pleistocene hominins and modern humans. Nuclear DNA indicated Neanderthals as a sister group of Denisovans after diverging from modern humans. However, the closer affinity of the Neanderthal mitochondrial DNA (mtDNA) to modern humans than Denisovans has recently been suggested as the result of gene flow from an African source into Neanderthals before 100,000 years ago. Here we report the complete mtDNA of an archaic femur from the Hohlenstein-Stadel (HST) cave in southwestern Germany...
July 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/28673863/mpv17-hepatocerebral-mitochondrial-dna-depletion-syndrome-presenting-as-acute-flaccid-paralysis-a-case-report
#9
Anjan Pyal, Arumugam Paramasivam, Angamuthu Kannan Meena, Velpula Bhagya Bhavana, Kumarasamy Thangaraj
Mutations in human MPV17 have been reported in patients with severe mitochondrial DNA (mtDNA) depletion manifesting as early childhood onset failure to thrive, hypoglycemia, encephalopathy and progressive liver failure. We describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive weakness of all 4 limbs with symmetrical proximal and distal weakness, gastrointestinal disease and leukoencephalopathy. Genetic analysis of the patient revealed a homozygous pathogenic mutation c...
June 30, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28655544/mitochondria-and-mitochondrial-dna-as-relevant-targets-for-environmental-contaminants
#10
Deborah A Roubicek, Nadja C de Souza-Pinto
The mitochondrial DNA (mtDNA) is a closed circular molecule that encodes, in humans, 13 polypeptides components of the oxidative phosphorylation complexes. Integrity of the mitochondrial genome is essential for mitochondrial function and cellular homeostasis, and mutations and deletions in the mtDNA lead to oxidative stress, mitochondrial dysfunction and cell death. In vitro and in situ studies suggest that when exposed to certain genotoxins, mtDNA accumulates more damage than nuclear DNA, likely owing to its organization and localization in the mitochondrial matrix, which tends to accumulate lipophilic, positively charged molecules...
June 24, 2017: Toxicology
https://www.readbyqxmd.com/read/28655460/bioaccumulation-of-metals-and-biomarkers-of-environmental-stress-in-parablennius-sanguinolentus-pallas-1814-sampled-along-the-italian-coast
#11
Margherita Ferrante, Anna Maria Pappalardo, Venera Ferrito, Valentina Pulvirenti, Carmelo Fruciano, Alfina Grasso, Salvatore Sciacca, Concetta Tigano, Chiara Copat
Heavy metal pollution is one of the greatest threats to the ecosystems because it degrades the habitat and is potentially toxic to wildlife and human populations. In the last few decades, bioaccumulation studies performed with a multimarker approach have been a valuable tool for the investigation of environmental and animal safety. We perform an analysis of a benthic teleost fish species - Parablennius sanguinolentus - sampled at several Italian coastal sites with different degrees of anthropogenic pressure...
June 24, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28655136/decreased-methylation-of-the-mitochondrial-d-loop-region-in-late-onset-alzheimer-s-disease
#12
Andrea Stoccoro, Gabriele Siciliano, Lucia Migliore, Fabio Coppedè
Mitochondrial impairment is a feature of neurodegeneration and many investigators have suggested that epigenetic modifications of the mitochondrial DNA (mtDNA) might be involved in late-onset Alzheimer's disease (LOAD), but evidence in humans is limited. We assessed the methylation levels of the mtDNA D-loop region in blood DNA from 133 LOAD patients and 130 controls, observing a significant 25% reduction of DNA methylation levels in the first group (2.3 versus 3.1%). Overall, the present data indicate that there is a decreased methylation of the D-loop region in LOAD peripheral blood DNA, suggesting that mtDNA epimutations deserve further investigations in AD pathogenesis...
June 22, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28654642/monitoring-of-noble-signal-and-narrow-clawed-crayfish-using-environmental-dna-from-freshwater-samples
#13
Sune Agersnap, William Brenner Larsen, Steen Wilhelm Knudsen, David Strand, Philip Francis Thomsen, Martin Hesselsøe, Peter Bondgaard Mortensen, Trude Vrålstad, Peter Rask Møller
For several hundred years freshwater crayfish (Crustacea-Decapoda-Astacidea) have played an important ecological, cultural and culinary role in Scandinavia. However, many native populations of noble crayfish Astacus astacus have faced major declines during the last century, largely resulting from human assisted expansion of non-indigenous signal crayfish Pacifastacus leniusculus that carry and transmit the crayfish plague pathogen. In Denmark, also the non-indigenous narrow-clawed crayfish Astacus leptodactylus has expanded due to anthropogenic activities...
2017: PloS One
https://www.readbyqxmd.com/read/28651360/novel-reproductive-technologies-to-prevent-mitochondrial-disease
#14
Lyndsey Craven, Mao-Xing Tang, Gráinne S Gorman, Petra De Sutter, Björn Heindryckx
BACKGROUND: The use of nuclear transfer (NT) has been proposed as a novel reproductive treatment to overcome the transmission of maternally-inherited mitochondrial DNA (mtDNA) mutations. Pathogenic mutations in mtDNA can cause a wide-spectrum of life-limiting disorders, collectively known as mtDNA disease, for which there are currently few effective treatments and no known cures. The many unique features of mtDNA make genetic counselling challenging for women harbouring pathogenic mtDNA mutations but reproductive options that involve medical intervention are available that will minimize the risk of mtDNA disease in their offspring...
June 23, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28636943/opa1-isoforms-in-the-hierarchical-organization-of-mitochondrial-functions
#15
Valentina Del Dotto, Prashant Mishra, Sara Vidoni, Mario Fogazza, Alessandra Maresca, Leonardo Caporali, J Michael McCaffery, Martina Cappelletti, Enrico Baruffini, Guy Lenaers, David Chan, Michela Rugolo, Valerio Carelli, Claudia Zanna
OPA1 is a GTPase that controls mitochondrial fusion, cristae integrity, and mtDNA maintenance. In humans, eight isoforms are expressed as combinations of long and short forms, but it is unclear whether OPA1 functions are associated with specific isoforms and/or domains. To address this, we expressed each of the eight isoforms or different constructs of isoform 1 in Opa1(-/-) MEFs. We observed that any isoform could restore cristae structure, mtDNA abundance, and energetic efficiency independently of mitochondrial network morphology...
June 20, 2017: Cell Reports
https://www.readbyqxmd.com/read/28623975/mitochondrial-dna-content-and-methylation-in-fetal-cord-blood-of-pregnancies-with-placental-insufficiency
#16
Chiara Novielli, Chiara Mandò, Silvia Tabano, Gaia M Anelli, Laura Fontana, Patrizio Antonazzo, Monica Miozzo, Irene Cetin
INTRODUCTION: Intrauterine growth restriction (IUGR) and preeclampsia (PE) are pregnancy disorders characterized by placental insufficiency with oxygen/nutrient restriction and oxidative stress, all influencing mitochondria functionality and number. Moreover, IUGR and PE fetuses are predisposed to diseases later in life, and this might occur through epigenetic alterations. Here we analyze content and methylation of mitochondrial DNA (mtDNA), for the first time in IUGR and PE singleton fetuses, to identify possible alterations in mtDNA levels and/or epigenetic control of mitochondrial loci relevant to replication (D-loop) and functionality (mt-TF/RNR1: protein synthesis, mt-CO1: respiratory chain complex)...
July 2017: Placenta
https://www.readbyqxmd.com/read/28619102/dl-3-n-butylphthalide-protects-the-heart-against-ischemic-injury-and-h9c2-cardiomyoblasts-against-oxidative-stress-involvement-of-mitochondrial-function-and-biogenesis
#17
Xiaochao Tian, Weiliang He, Rong Yang, Yingping Liu
BACKGROUND: Myocardial infarction (MI) is an acute and fatal condition that threatens human health. Dl-3-n-butylphthalide (NBP) has been used for the treatment of acute ischemic stroke. Mitochondria may play a protective role in MI injury. However, there are few reports on the cardioprotective effect of NBP or the potential mitochondrial mechanism for the NBP-induced protection against cardiac ischemia injury. We investigated the therapeutic effects of NBP in an in vivo MI model and an in vitro oxidative stress model, as well as the potential mitochondrial mechanism...
June 15, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28618992/modulating-mitophagy-in-mitochondrial-disease
#18
Eszter Dombi, Heather Mortiboys, Joanna Poulton
Mitochondrial diseases may result from mutations in the maternally-inherited mitochondrial DNA (mtDNA) or from mutations in nuclear genes encoding mitochondrial proteins. Their bi-genomic nature makes mitochondrial diseases a very heterogeneous group of disorders that can present at any age and can affect any type of tissue. The autophagic-lysosomal degradation pathway plays an important role in clearing dysfunctional and redundant mitochondria through a specific quality control mechanism termed mitophagy. Mitochondria could be targeted for autophagic degradation for a variety of reasons including basal turnover for recycling, starvation induced degradation, and degradation due to damage...
June 16, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28618746/male-infertility-is-significantly-associated-with-multiple-deletions-in-an-8-7-kb-segment-of-sperm-mtdna-in-pakistan
#19
Irfan Afzal Mughal, Asma Irfan, Sarwat Jahan, Abdul Hameed
BACKGROUND/AIM: This study aimed to find a link between sperm mitochondrial DNA mutations and male infertility in Pakistan. MATERIALS AND METHODS: DNA from semen samples was extracted and amplified by PCR using 7.8-kb deletion-specific primers. The PCR products were separated on agarose gel, visualized under UV-illumination, and then photographed. The results were genotyped and the data were analyzed using SPSS. RESULTS: Deletion analysis of the 8...
June 12, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28615444/the-human-mitochondrial-single-strand-dna-binding-protein-displays-distinct-kinetics-and-thermodynamics-of-dna-binding-and-exchange
#20
Yufeng Qian, Kenneth A Johnson
The human mitochondrial SSB (mtSSB) is a homo-tetrameric protein, involved in mtDNA replication and maintenance. Although mtSSB is structurally similar to SSB from Escherichia coli (EcoSSB), it lacks the C-terminal disordered domain but little is known about the biophysics of mtSSB-ssDNA interactions. Here, we characterized the kinetics and thermodynamics of mtSSB binding to ssDNA by equilibrium titrations and stopped-flow kinetic measurements. We show that the mtSSB tetramer can bind to ssDNA in two distinct binding modes: (SSB)30 and (SSB)60, defined by DNA binding site sizes of 30 and 60 nt, respectively...
June 14, 2017: Journal of Biological Chemistry
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