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https://www.readbyqxmd.com/read/29161289/mitochondrial-dna-sequence-context-in-the-penetrance-of-mitochondrial-t-rna-mutations-a-study-across-multiple-lineages-with-diagnostic-implications
#1
Rachel A Queen, Jannetta S Steyn, Phillip Lord, Joanna L Elson
Mitochondrial DNA (mtDNA) mutations are well recognized as an important cause of inherited disease. Diseases caused by mtDNA mutations exhibit a high degree of clinical heterogeneity with a complex genotype-phenotype relationship, with many such mutations exhibiting incomplete penetrance. There is evidence that the spectrum of mutations causing mitochondrial disease might differ between different mitochondrial lineages (haplogroups) seen in different global populations. This would point to the importance of sequence context in the expression of mutations...
2017: PloS One
https://www.readbyqxmd.com/read/29158541/dysregulation-of-mitochondrial-function-and-biogenesis-modulators-in-adipose-tissue-of-obese-children
#2
R Zamora-Mendoza, H Rosas-Vargas, M T Ramos-Cervantes, P Garcia-Zuniga, H Perez-Lorenzana, P Mendoza-Lorenzo, A Perez-Ortiz, J Estrada, A Miliar-Garcia, E Lara-Padilla, G Ceballos, A Rodriguez, F Villarreal, I Ramirez-Sanchez
BACKGROUND/OBJECTIVES: We aimed to evaluate mitochondrial biogenesis (MB), structure, metabolism, and dysfunction in abdominal adipose tissue from male pediatric patients with obesity. SUBJECTS/METHODS: Samples were collected from five children with obesity (percentile ⩾95) and five eutrophic boys (percentile ⩾5/⩽85) (8-12 years old) following parental informed consent. We analyzed the expression of key genes involved in MB (SIRT1, PPARγ, PGC1α, NRF1, NRF2, and TFAM) and surrogates for mitochondrial function/structure/metabolism (porin, TOMM20, complex I and V, UCP1, UCP2, SIRT3, SOD2) by Western blot...
November 21, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29158291/rad51c-xrcc3-facilitates-mitochondrial-dna-replication-and-maintains-integrity-of-the-mitochondrial-genome
#3
Anup Mishra, Sneha Saxena, Anjali Kaushal, Ganesh Nagaraju
Mechanisms underlying mitochondrial genome maintenance have recently gained wide attention as mutations in mitochondrial DNA (mtDNA) lead to inherited muscular and neurological diseases which are linked to aging. It has been previously reported that human RAD51, RAD51C and XRCC3 localize to mitochondria upon oxidative stress and are required for the maintenance of mtDNA stability. Since RAD51 and RAD51 paralogs are spontaneously imported into mitochondria, their precise role in mtDNA maintenance during unperturbed conditions remains elusive...
November 20, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/29158129/mitochondrial-transfer-between-cells-methodological-constraints-in-cell-culture-and-animal-models
#4
M V Berridge, P M Herst, M R Rowe, R Schneider, M J McConnell
Interest in the recently discovered phenomenon of mitochondrial transfer between mammalian cells has gained momentum since it was first described in cell culture systems more than a decade ago. Mitochondria-targeting fluorescent dyes have been repurposed and are now widely used in these studies and in acute disease models, sometimes without due consideration of their limitations, while vectors containing mitochondrially-imported fluorescent proteins have complemented the use of mitochondria-targeting dyes. Genetic approaches that use mitochondrial DNA polymorphisms have also been used in some in vitro studies and in tumor models and are particularly useful where mtDNA is damaged or deleted...
November 17, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/29157198/independent-impacts-of-aging-on-mitochondrial-dna-quantity-and-quality-in-humans
#5
Ruoyu Zhang, Yiqin Wang, Kaixiong Ye, Martin Picard, Zhenglong Gu
BACKGROUND: The accumulation of mitochondrial DNA (mtDNA) mutations, and the reduction of mtDNA copy number, both disrupt mitochondrial energetics, and may contribute to aging and age-associated phenotypes. However, there are few genetic and epidemiological studies on the spectra of blood mtDNA heteroplasmies, and the distribution of mtDNA copy numbers in different age groups and their impact on age-related phenotypes. In this work, we used whole-genome sequencing data of isolated peripheral blood mononuclear cells (PBMCs) from the UK10K project to investigate in parallel mtDNA heteroplasmy and copy number in 1511 women, between 17 and 85 years old, recruited in the TwinsUK cohorts...
November 21, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29157056/the-intron-landscape-of-the-mtdna-cytb-gene-among-the-ascomycota-introns-and-intron-encoded-open-reading-frames
#6
Tuhin K Guha, Alvan Wai, Sahra-Taylor Mullineux, Georg Hausner
Fungal mitochondrial genes are frequently noted for the presence of introns. These introns are self-splicing and can be assigned to either group I or II introns and they can encode open reading frames (ORFs). This study examines the introns present within the cytochrome b (cytb) gene of ascomycetes fungi. Cytochrome b gene sequences were sampled from GenBank and supplemented with our own data for species of Leptographium and Ophiostoma. Group I introns were encountered most frequently, many encoding either LAGLIDADG or GIY-YIG homing endonucleases (HEs)...
November 20, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/29157054/genetic-diversity-and-genetic-structure-of-farmed-and-wild-chinese-mitten-crab-eriocheir-sinensis-populations-from-three-major-basins-by-mitochondrial-dna-coi-and-cyt-b-gene-sequences
#7
Cheng Zhang, Qingqing Li, Xugan Wu, Qing Liu, Yongxu Cheng
The Chinese mitten crab, Eriocheir sinensis, is one of the important native crab species in East Asian region, which has been widely cultured throughout China, particularly in river basins of Yangtze, Huanghe and Liaohe. This study was designed to evaluate the genetic diversity and genetic structure of cultured and wild E. sinensis populations from the three river basins based on mitochondrial DNA (mtDNA) cytochrome oxidase subunit I (COI) and cytochrome b (Cyt b). The results showed that there were 62 variable sites and 30 parsimony informative sites in the 647 bp of sequenced mtDNA COI from 335 samples...
November 20, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/29156421/impaired-mitochondrial-respiration-in-human-carotid-plaque-atherosclerosis-a-potential-role-for-pink1-in-vascular-smooth-muscle-cell-energetics
#8
Craig K Docherty, Andy Carswell, Elaine Friel, John R Mercer
BACKGROUND AND AIMS: DNA damage and mitochondrial dysfunction are thought to play an essential role in ageing and the energetic decline of vascular smooth muscle cells (VSMCs) essential for maintaining plaque integrity. We aimed to better understand VSMCs and identify potentially useful compensatory pathways that could extend their lifespan. Moreover, we wanted to assess if defects in mitochondrial respiration exist in human atherosclerotic plaques and to identify the appropriate markers that may reflect a switch in VSMC energy metabolism...
November 13, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29155328/mitochondrial-trna-leu-uur-c3275t-trna-gln-t4363c-and-trna-lys-a8343g-mutations-may-be-associated-with-pcos-and-metabolic-syndrome
#9
Yu Ding, Bo-Hou Xia, Cai-Juan Zhang, Guang-Chao Zhuo
Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitted MetS, combined with PCOS...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29155285/parasite-infection-of-specific-host-genotypes-relates-to-changes-in-prevalence-in-two-natural-populations-of-bumblebees
#10
Oliver Manlik, Regula Schmid-Hempel, Paul Schmid-Hempel
The antagonistic relationship between parasites and their hosts is strongly influenced by genotype-by-genotype interactions. Defense against parasitism is commonly studied in the context of immune system-based mechanisms and, thus, the focus in the search for candidate genes in host-parasite interactions is often on immune genes. In this study, we investigated the association between prevalence of parasite infection and host mitochondrial DNA (mtDNA) haplotypes in two natural populations of bumblebees (Bombus terrestris)...
November 16, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29151031/significant-association-between-low-mitochondrial-dna-content-in-peripheral-blood-leukocytes-and-ischemic-stroke
#11
Li-Ming Lien, Hung-Yi Chiou, Hsu-Ling Yeh, Shang-Yen Chiu, Jiann-Shing Jeng, Huey-Juan Lin, Chaur-Jong Hu, Fang-I Hsieh, Yau-Huei Wei
BACKGROUND: Cumulative evidence has shown that low mitochondrial DNA (mtDNA) content is related to elevated oxidative stress and atherosclerosis, which play important roles in ischemic stroke. The objective of this study was to explore the association between mtDNA content in peripheral blood leukocytes and ischemic stroke. METHODS AND RESULTS: A total of 350 patients with first-ever ischemic stroke and 350 healthy controls were recruited in this case-control study...
November 18, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29149768/mitochondrial-dna-changes-in-pedunculopontine-cholinergic-neurons-in-parkinson-s
#12
Alexander G Bury, Angela Pyle, Joanna L Elson, Laura Greaves, Christopher M Morris, Gavin Hudson, Ilse S Pienaar
In Parkinson's disease (PD), mitochondrial dysfunction associates with nigral dopaminergic neuronal loss. Cholinergic neuronal loss co-occurs, particularly within a brainstem structure, the pedunculopontine nucleus (PPN). We isolated single cholinergic neurons from post-mortem PPNs of aged controls and PD patients. Mitochondrial DNA (mtDNA) copy number and mtDNA deletions were increased significantly in PD patients compared to controls. Furthermore, compared to controls the PD patients had significantly more PPN cholinergic neurons containing mtDNA deletion levels exceeding 60%, a level associated with deleterious effects on oxidative phosphorylation...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149282/structure-related-differences-between-cytochrome-oxidase-i-proteins-in-a-stable-heteroplasmic-mitochondrial-system
#13
David O F Skibinski, Fabrizio Ghiselli, Angel P Diz, Liliana Milani, Jonathan G L Mullins
Many bivalve species have two types of mitochondrial DNA (mtDNA) passed independently through the female line (F genome) and male line (M genome). Here we study the Cytochrome oxidase I (COI) protein in such bivalve species and provide evidence for differences between the F and M proteins in amino acid property values, particularly relating to hydrophobicity and helicity. The magnitude of these differences varies between different regions of the protein and the change from the ancestor is most marked in the M protein...
November 14, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29143714/new-insights-into-mitogenomic-phylogeny-and-copy-number-in-eight-indigenous-sheep-populations-based-on-the-atp-synthase-and-cytochrome-c-oxidase-genes
#14
P Xiao, L L Niu, Q J Zhao, X Y Chen, L J Wang, L Li, H P Zhang, J Z Guo, H Y Xu, T Zhong
The origins and phylogeny of different sheep breeds has been widely studied using polymorphisms within the mitochondrial hypervariable region. However, little is known about the mitochondrial DNA (mtDNA) content and phylogeny based on mtDNA protein-coding genes. In this study, we assessed the phylogeny and copy number of the mtDNA in eight indigenous (population size, n=184) and three introduced (n=66) sheep breeds in China based on five mitochondrial coding genes (COX1, COX2, ATP8, ATP6 and COX3). The mean haplotype and nucleotide diversities were 0...
November 16, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/29142323/nkx6-1-decline-accompanies-mitochondrial-dna-reduction-but-subtle-nucleoid-size-decrease-in-pancreatic-islet-%C3%AE-cells-of-diabetic-goto-kakizaki-rats
#15
Tomáš Špaček, Vojtěch Pavluch, Lukáš Alán, Nikola Capková, Hana Engstová, Andrea Dlasková, Zuzana Berková, František Saudek, Petr Ježek
Hypertrophic pancreatic islets (PI) of Goto Kakizaki (GK) diabetic rats contain a lower number of β-cells vs. non-diabetic Wistar rat PI. Remaining β-cells contain reduced mitochondrial (mt) DNA per nucleus (copy number), probably due to declining mtDNA replication machinery, decreased mt biogenesis or enhanced mitophagy. We confirmed mtDNA copy number decrease down to <30% in PI of one-year-old GK rats. Studying relations to mt nucleoids sizes, we employed 3D superresolution fluorescent photoactivable localization microscopy (FPALM) with lentivirally transduced Eos conjugate of mt single-stranded-DNA-binding protein (mtSSB) or transcription factor TFAM; or by 3D immunocytochemistry...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142317/the-maternal-genetic-make-up-of-the-iberian-peninsula-between-the-neolithic-and-the-early-bronze-age
#16
Anna Szécsényi-Nagy, Christina Roth, Guido Brandt, Cristina Rihuete-Herrada, Cristina Tejedor-Rodríguez, Petra Held, Íñigo García-Martínez-de-Lagrán, Héctor Arcusa Magallón, Stephanie Zesch, Corina Knipper, Eszter Bánffy, Susanne Friederich, Harald Meller, Primitiva Bueno Ramírez, Rosa Barroso Bermejo, Rodrigo de Balbín Behrmann, Ana M Herrero-Corral, Raúl Flores Fernández, Carmen Alonso Fernández, Javier Jiménez Echevarria, Laura Rindlisbacher, Camila Oliart, María-Inés Fregeiro, Ignacio Soriano, Oriol Vicente, Rafael Micó, Vicente Lull, Jorge Soler Díaz, Juan Antonio López Padilla, Consuelo Roca de Togores Muñoz, Mauro S Hernández Pérez, Francisco Javier Jover Maestre, Joaquín Lomba Maurandi, Azucena Avilés Fernández, Katina T Lillios, Ana Maria Silva, Miguel Magalhães Ramalho, Luiz Miguel Oosterbeek, Claudia Cunha, Anna J Waterman, Jordi Roig Buxó, Andrés Martínez, Juana Ponce Martínez, Mark Hunt Ortiz, Juan Carlos Mejías-García, Juan Carlos Pecero Espín, Rosario Cruz-Auñón Briones, Tiago Tomé, Eduardo Carmona Ballestero, João Luís Cardoso, Ana Cristina Araújo, Corina Liesau von Lettow-Vorbeck, Concepción Blasco Bosqued, Patricia Ríos Mendoza, Ana Pujante, José I Royo-Guillén, Marco Aurelio Esquembre Beviá, Victor Manuel Dos Santos Goncalves, Rui Parreira, Elena Morán Hernández, Elena Méndez Izquierdo, Jorge Vega Y Miguel, Roberto Menduiña García, Victoria Martínez Calvo, Oscar López Jiménez, Johannes Krause, Sandra L Pichler, Rafael Garrido-Pena, Michael Kunst, Roberto Risch, Manuel A Rojo-Guerra, Wolfgang Haak, Kurt W Alt
Agriculture first reached the Iberian Peninsula around 5700 BCE. However, little is known about the genetic structure and changes of prehistoric populations in different geographic areas of Iberia. In our study, we focus on the maternal genetic makeup of the Neolithic (~ 5500-3000 BCE), Chalcolithic (~ 3000-2200 BCE) and Early Bronze Age (~ 2200-1500 BCE). We report ancient mitochondrial DNA results of 213 individuals (151 HVS-I sequences) from the northeast, central, southeast and southwest regions and thus on the largest archaeogenetic dataset from the Peninsula to date...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29142257/using-a-quantitative-quadruple-immunofluorescent-assay-to-diagnose-isolated-mitochondrial-complex-i-deficiency
#17
Syeda T Ahmed, Charlotte L Alston, Sila Hopton, Langping He, Iain P Hargreaves, Gavin Falkous, Monika Oláhová, Robert McFarland, Doug M Turnbull, Mariana C Rocha, Robert W Taylor
Isolated Complex I (CI) deficiency is the most commonly observed mitochondrial respiratory chain biochemical defect, affecting the largest OXPHOS component. CI is genetically heterogeneous; pathogenic variants affect one of 38 nuclear-encoded subunits, 7 mitochondrial DNA (mtDNA)-encoded subunits or 14 known CI assembly factors. The laboratory diagnosis relies on the spectrophotometric assay of enzyme activity in mitochondrially-enriched tissue homogenates, requiring at least 50 mg skeletal muscle, as there is no reliable histochemical method for assessing CI activity directly in tissue cryosections...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29139643/the-remote-isolate-of-the-croatian-littoral-%C3%A2-50-years-of-research-on-the-island-of-susak-with-new-insights-into-its-genetic-diversity
#18
Jelena Šarac
This paper presents a review of the 50-year long anthropological and epidemiological research of the Susak population. Island of Susak is an example of extreme genetic isolate, with a very low level of heterozygosity and a significantly high level of inbreeding, due to the practice of endogamy. Its specific features have put the island in the focus of diverse research during the last five decades and in this study we additionally present new insights into the island’s maternal genetic heritage. For this purpose, mitochondrial DNA (mtDNA) haplogroup diversity was defined based on SNPs of the control and coding region on the sample of 64 autochthonous individuals from the island...
March 2017: Collegium Antropologicum
https://www.readbyqxmd.com/read/29139642/matrilineal-heritage-in-southern-iberia-reveals-deep-genetic-links-between-continents
#19
Candela L Hernández, Rosario Calderón
Within the Mediterranean Basin, the Iberian Peninsula has been a focus of attraction for several cultures and civilizations from its prehistory and history, making it a target territory for studying human migration patterns and peopling processes using a wide and heterogeneous spectrum of genomic markers. While its Cantabrian fringe represents the most regularly analysed area in terms of its mitochondrial diversity, the absence of monographic surveys on the maternal genetic composition of southern Iberians (i...
March 2017: Collegium Antropologicum
https://www.readbyqxmd.com/read/29139113/prevalence-of-headache-in-patients-with-mitochondrial-disease-a-cross-sectional-study
#20
Torsten Kraya, Marcus Deschauer, Pushpa Raj Joshi, Stephan Zierz, Charly Gaul
BACKGROUND: Mitochondrial diseases are a heterogeneous group of diseases with different phenotypes and genotypes. Headache and, particularly migraine, seems to occur often in patients with MELAS and in patients with CPEO phenotypes. The International Classification of Headache Disorders (ICHD-3 beta) has classified headache as a secondary entity only in MELAS patients. Other headache phenotypes in mitochondrial diseases are not considered in ICHD-3beta. In this study, we analyzed headache phenomenology in a large group of patients with mitochondrial disorders...
November 15, 2017: Headache
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