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https://www.readbyqxmd.com/read/28098432/a-multi-mitochondrial-anticancer-agent-that-selectively-kills-cancer-cells-and-overcomes-drug-resistance
#1
Yong Bo Peng, Zi Long Zhao, Teng Liu, Guo Jian Xie, Cheng Jin, Tang Gang Deng, Yang Sun, Xiong Li, Xiao Xiao Hu, Xiao Bing Zhang, Mao Ye, Wei Hong Tan
Mitochondria are double-membrane-bound organelles involved mainly in supplying cellular energy, but also play roles in signaling, cell differentiation, and cell death. Mitochondria are implicated in carcinogenesis, and therefore dozens of lethal signal transduction pathways converge on these organelles. Accordingly, mitochondria provide an alternative target for cancer management. In this study, F16, a drug that targets mitochondria, and chlorambucil (CBL), which is indicated for the treatment of selected human neoplastic diseases, were covalently linked, resulting in the synthesis of a multi-mitochondrial anticancer agent, FCBL...
January 18, 2017: ChemMedChem
https://www.readbyqxmd.com/read/28094012/mammalian-mitochondria-and-aging-an-update
#2
REVIEW
Timo E S Kauppila, Johanna H K Kauppila, Nils-Göran Larsson
Mitochondria were first postulated to contribute to aging more than 40 years ago. During the following decades, multiple lines of evidence in model organisms and humans showed that impaired mitochondrial function can contribute to age-associated disease phenotypes and aging. However, in contrast to the original theory favoring oxidative damage as a cause for mtDNA mutations, there are now strong data arguing that most mammalian mtDNA mutations originate as replication errors made by the mtDNA polymerase. Currently, a substantial amount of mitochondrial research is focused on finding ways to either remove or counteract the effects of mtDNA mutations with the hope of extending the human health- and lifespan...
January 10, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28079893/mitochondrial-respiratory-dysfunction-disturbs-neuronal-and-cardiac-lineage-commitment-of-human-ipscs
#3
Mutsumi Yokota, Hideyuki Hatakeyama, Yasuha Ono, Miyuki Kanazawa, Yu-Ichi Goto
Mitochondrial diseases are genetically heterogeneous and present a broad clinical spectrum among patients; in most cases, genetic determinants of mitochondrial diseases are heteroplasmic mitochondrial DNA (mtDNA) mutations. However, it is uncertain whether and how heteroplasmic mtDNA mutations affect particular cellular fate-determination processes, which are closely associated with the cell-type-specific pathophysiology of mitochondrial diseases. In this study, we established two isogenic induced pluripotent stem cell (iPSC) lines each carrying different proportions of a heteroplasmic m...
January 12, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28078444/mps-analysis-of-the-mtdna-hypervariable-regions-on-the-miseq-with-improved-enrichment
#4
Mitchell M Holland, Laura A Wilson, Sarah Copeland, Gloria Dimick, Charity A Holland, Robert Bever, Jennifer A McElhoe
The non-coding displacement (D) loop of the human mitochondrial (mt) genome contains two hypervariable regions known as HVR1 and HVR2 that are most often analyzed by forensic DNA laboratories. The massively parallel sequencing (MPS) protocol from Illumina (Human mtDNA D-Loop Hypervariable Region protocol) utilizes four sets of established PCR primer pairs for the initial amplification (enrichment) step that span the hypervariable regions. Transposase adapted (TA) sequences are attached to the 5'-end of each primer, allowing for effective library preparation prior to analysis on the MiSeq, and AmpliTaq Gold DNA polymerase is the enzyme recommended for amplification...
January 11, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28077604/the-mitochondrial-dna-content-of-cumulus-granulosa-cells-is-linked-to-embryo-quality
#5
V Desquiret-Dumas, A Clément, V Seegers, L Boucret, V Ferré-L'Hotellier, P E Bouet, P Descamps, V Procaccio, P Reynier, P May-Panloup
STUDY QUESTION: Could the mitochondrial DNA (mtDNA) content of cumulus granulosa cells (CGCs) be related to oocyte competence? SUMMARY ANSWER: The quality of embryos obtained during IVF procedures appears to be linked to mtDNA copy numbers in the CGCs. WHAT IS KNOWN ALREADY: Oocyte quality is linked to oocyte mtDNA content in the human and other species, and the mtDNA copy number of the oocyte is related to that of the corresponding CGCs. Moreover, the quantification of CGC mtDNA has recently been proposed as a biomarker of embryo viability...
January 6, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28069933/no-correlation-between-mtdna-amount-and-methylation-levels-at-the-cpg-island-of-polg-exon-2-in-wild-type-and-mutant-human-differentiated-cells
#6
Julie Steffann, Aurore Pouliet, Houda Adjal, Christine Bole, Cécile Fourrage, Jelena Martinovic, Louise Rolland-Galmiche, Agnes Rotig, Frédéric Tores, Arnold Munnich, Jean-Paul Bonnefont
BACKGROUND: While mitochondrial DNA (mtDNA) copy number is strictly regulated during differentiation and according to cell type, very little is known regarding the mechanism which accurately controls mtDNA copy number in human. Exon 2 of the human POLG gene, encoding the catalytic subunit of the mitochondrial-specific DNA polymerase gamma, contains a CpG island, highly conserved in mice and human. Changes of DNA methylation at the POLG locus have been shown to modulate mtDNA copy number during cell differentiation in both mouse and human...
January 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28068530/a-new-view-on-the-european-feline-population-from-mtdna-analysis-in-polish-domestic-cats
#7
Iwona Głażewska, Tomasz Kijewski
Domestic cats from Eastern Europe have been poorly represented in studies on mitochondrial DNA diversity for forensic purposes until now. The aim of the present study was to contribute to closing this gap. The genetic structure and the origin of a cat population in Poland were examined against the background of human migrations over the centuries. One hundred and eighty-one cats from animal shelters in seven cities were genotyped. Twenty-one mtDNA haplotypes were found, with only one haplotype present in each of the populations, at an average frequency of 63...
December 29, 2016: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28057461/anisakis-simplex-complex-ecological-significance-of-recombinant-genotypes-in-an-allopatric-area-of-the-adriatic-sea-inferred-by-genome-derived-simple-sequence-repeats
#8
Ivona Mladineo, Željka Trumbić, Ivana Radonić, Anamarija Vrbatović, Jerko Hrabar, Ivana Bušelić
The genus Anisakis includes nine species which, due to close morphological resemblance even in the adult stage, have previously caused many issues in their correct identification. Recently observed interspecific hybridisation in sympatric areas of two closely related species, Anisakis simplex sensu stricto (s.s.) and Anisakis pegreffii, has raised concerns whether a F1 hybrid generation is capable of overriding the breeding barrier, potentially giving rise to more resistant/pathogenic strains infecting humans...
January 3, 2017: International Journal for Parasitology
https://www.readbyqxmd.com/read/28057297/fly-models-of-human-diseases-drosophila-as-a-model-for-understanding-human-mitochondrial-mutations-and-disease
#9
A Sen, R T Cox
Mitochondrial diseases are a prevalent, heterogeneous class of diseases caused by defects in oxidative phosphorylation, whose severity depends upon particular genetic mutations. These diseases can be difficult to diagnose, and current therapeutics have limited efficacy, primarily treating only symptoms. Because mitochondria play a pivotal role in numerous cellular functions, especially ATP production, their diminished activity has dramatic physiological consequences. While this in and of itself makes treating mitochondrial disease complex, these organelles contain their own DNA, mtDNA, whose products are required for ATP production, in addition to the hundreds of nucleus-encoded proteins...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28050401/large-scale-7436-bp-deletions-in-human-sperm-mitochondrial-dna-with-spermatozoa-dysfunction-and-male-infertility
#10
Prafulla S Ambulkar, Jwalant E Waghmare, Ajay R Chaudhari, Vandana R Wankhede, Aaditya M Tarnekar, Moreshwar R Shende, Asoke K Pal
INTRODUCTION: Mitochondria and mitochondrial DNA are essential to sperm motility and fertility. It controls growth, development and differentiation through oxidation energy supply. Mitochondrial (mtDNA) deletions or mutation are frequently attributed to defects of sperm motility and finally these deletions lead to sperm dysfunction and causes infertility in male. AIM: To investigate the correlation between large scale 7436-bp deletions in sperm mtDNA and non-motility of sperm in asthenozoospermia and Oligoasthenoteratozoospermia (OAT) infertile men...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28049628/initiation-of-mtdna-transcription-is-followed-by-pausing-and-diverge-across-human-cell-types-and-during-evolution
#11
Amit Blumberg, Edward J Rice, Anshul Kundaje, Charles G Danko, Dan Mishmar
Mitochondrial DNA (mtDNA) genes are long known to be co-transcribed in polycistrones, yet it remains impossible to study nascent mtDNA transcripts quantitatively in vivo using existing tools. To this end we used deep sequencing (GRO-seq and PRO-seq) and analyzed nascent mtDNA-encoded RNA transcripts in diverse human cell lines and metazoan organisms. Surprisingly, accurate detection of human mtDNA transcription initiation sites (TIS) in the heavy and light strands revealed a novel conserved transcription pausing site near the light strand TIS...
January 3, 2017: Genome Research
https://www.readbyqxmd.com/read/28042097/parkin-deficiency-accelerates-consequences-of-mitochondrial-dna-deletions-and-parkinsonism
#12
Lanying Song, Marissa McMackin, Andy Nguyen, Gino Cortopassi
Parkinson's disease (PD) is a neurodegenerative condition caused by age-related death of dopaminergic (DA) neurons in the substantia nigra (SN). Mitochondrial DNA (mtDNA) deletions rise exponentially with age in humans and reach their highest levels approaching 60% in dopaminergic neurons of the substantia nigra and overlap with dying neurons. Parkin deletion causes Parkinsonism in humans, presumably through a decrease in mitochondrial quality control, but Parkin knockout mice do not have DA neurodegeneration...
December 29, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/28027964/characterization-of-bombyx-mori-mitochondrial-transcription-factor-a-a-conserved-regulator-of-mitochondrial-dna
#13
Megumi Sumitani, Mari Kondo, Katsumi Kasashima, Hitoshi Endo, Kaoru Nakamura, Toshihiko Misawa, Hiromitsu Tanaka, Hideki Sezutsu
In the present study, we initially cloned and characterized a mitochondrial transcription factor A (Tfam) homologue in the silkworm, Bombyx mori. Bombyx mori TFAM (BmTFAM) localized to mitochondria in cultured silkworm and human cells, and co-localized with mtDNA nucleoids in human HeLa cells. In an immunoprecipitation analysis, BmTFAM was found to associate with human mtDNA in mitochondria, indicating its feature as a non-specific DNA-binding protein. In spite of the low identity between BmTFAM and human TFAM (26...
December 24, 2016: Gene
https://www.readbyqxmd.com/read/27994175/phylogeography-genetic-diversity-and-demographic-history-of-the-iranian-kurdish-groups-based-on-mtdna-sequences
#14
Fatah Zarei, Hassan Rajabi-Maham
Throughout the history of modern humans, the current Kurdish-inhabited area has served as part of a tricontinental crossroad for major human migrations. Also, a significant body of archaeological evidence points to this area as the site of Neolithic transition. To investigate the phylogeography, origins and demographic history, mtDNA D-loop region of individuals representing four Kurdish groups from Iran were analysed. Our data indicated that most of the Kurds mtDNA lineages belong to branches of the haplogroups with the Western Eurasian origin; with small fractions of the Eastern Eurasian and sub-Saharan African lineages...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27979772/integration-of-mtdna-pseudogenes-into-the-nuclear-genome-coincides-with-speciation-of-the-human-genus-a-hypothesis
#15
Konstantin Gunbin, Leonid Peshkin, Konstantin Popadin, Sofia Annis, Rebecca R Ackermann, Konstantin Khrapko
Fragments of mitochondrial DNA are known to get inserted into nuclear DNA to form NUMTs, i.e. nuclear pseudogenes of the mtDNA. The insertion of a NUMT is a rare event. Hundreds of pseudogenes have been cataloged in the human genome. NUMTs are, in essence, a special type of mutation with their own internal timer, which is synchronized with an established molecular clock, the mtDNA. Thus insertion of NUMTs can be timed with respect to evolution milestones such as the emergence of new species. We asked whether NUMTs were inserted uniformly over time or preferentially during certain periods of evolution, as implied by the "punctuated evolution" model...
December 12, 2016: Mitochondrion
https://www.readbyqxmd.com/read/27974645/dysregulated-mitophagy-and-mitochondrial-organization-in-optic-atrophy-due-to-opa1-mutations
#16
Chunyan Liao, Neil Ashley, Alan Diot, Karl Morten, Kanchan Phadwal, Andrew Williams, Ian Fearnley, Lyndon Rosser, Jo Lowndes, Carl Fratter, David J P Ferguson, Laura Vay, Gerardine Quaghebeur, Isabella Moroni, Stefania Bianchi, Costanza Lamperti, Susan M Downes, Kamil S Sitarz, Padraig J Flannery, Janet Carver, Eszter Dombi, Daniel East, Matilde Laura, Mary M Reilly, Heather Mortiboys, Remko Prevo, Michelangelo Campanella, Matthew J Daniels, Massimo Zeviani, Patrick Yu-Wai-Man, Anna Katharina Simon, Marcela Votruba, Joanna Poulton
OBJECTIVE: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls. METHODS: Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitive regression, and epilepsy in addition to loss of vision. We quantified mitophagy in dermal fibroblasts, using 2 high throughput imaging systems, by visualizing colocalization of mitochondrial fragments with engulfing autophagosomes...
January 10, 2017: Neurology
https://www.readbyqxmd.com/read/27973718/human-nuclear-genome-transfer-so-called-mitochondrial-replacement-clearing-the-underbrush
#17
Françoise Baylis
In this article, I argue that there is no compelling therapeutic 'need' for human nuclear genome transfer (so-called mitochondrial replacement) to prevent mitochondrial diseases caused by mtDNA mutations. At most there is a strong interest in (i.e. 'want' for) this technology on the part of some women and couples at risk of having children with mitochondrial disease, and perhaps also a 'want' on the part of some researchers who see the technology as a useful precedent - one that provides them with 'a quiet way station' in which to refine the micromanipulations techniques essential for other human germline interventions and human cloning...
January 2017: Bioethics
https://www.readbyqxmd.com/read/27955616/the-ability-of-human-nuclear-dna-to-cause-false-positive-low-abundance-heteroplasmy-calls-varies-across-the-mitochondrial-genome
#18
Levent Albayrak, Kamil Khanipov, Maria Pimenova, George Golovko, Mark Rojas, Ioannis Pavlidis, Sergei Chumakov, Gerardo Aguilar, Arturo Chávez, William R Widger, Yuriy Fofanov
BACKGROUND: Low-abundance mutations in mitochondrial populations (mutations with minor allele frequency ≤ 1%), are associated with cancer, aging, and neurodegenerative disorders. While recent progress in high-throughput sequencing technology has significantly improved the heteroplasmy identification process, the ability of this technology to detect low-abundance mutations can be affected by the presence of similar sequences originating from nuclear DNA (nDNA). To determine to what extent nDNA can cause false positive low-abundance heteroplasmy calls, we have identified mitochondrial locations of all subsequences that are common or similar (one mismatch allowed) between nDNA and mitochondrial DNA (mtDNA)...
December 12, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27941687/low-dose-methylmercury-induced-genes-regulate-mitochondrial-biogenesis-via-mir-25-in-immortalized-human-embryonic-neural-progenitor-cells
#19
Xinjin Wang, Mengling Yan, Lina Zhao, Qing Wu, Chunhua Wu, Xiuli Chang, Zhijun Zhou
Mitochondria are essential organelles and important targets for environmental pollutants. The detection of mitochondrial biogenesis and generation of reactive oxygen species (ROS) and p53 levels following low-dose methylmercury (MeHg) exposure could expand our understanding of underlying mechanisms. Here, the sensitivity of immortalized human neural progenitor cells (ihNPCs) upon exposure to MeHg was investigated. We found that MeHg altered cell viability and the number of 5-ethynyl-2'-deoxyuridine (EdU)-positive cells...
December 9, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27939588/ascaris-phylogeny-based-on-multiple-whole-mtdna-genomes
#20
Peter Nejsum, Mohamed B F Hawash, Martha Betson, J Russell Stothard, Robin B Gasser, Lee O Andersen
Ascaris lumbricoides and A. suum are two parasitic nematodes infecting humans and pigs, respectively. There has been considerable debate as to whether Ascaris in the two hosts should be considered a single or two separate species. Previous studies identified at least three major clusters (A, B and C) of human and pig Ascaris based on partial cox1 sequences. In the present study, we selected major haplotypes from these different clusters to characterize their whole mitochondrial genomes for phylogenetic analysis...
December 7, 2016: Infection, Genetics and Evolution
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