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mitochondrial copy number

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https://www.readbyqxmd.com/read/29454073/the-accumulation-of-assembly-intermediates-of-the-mitochondrial-complex-i-matrix-arm-is-reduced-by-limiting-glucose-uptake-in-a-neuronal-like-model-of-melas-syndrome
#1
Guillaume Geffroy, Rayane Benyahia, Samuel Frey, Valerie Desquiret-Dumas, Naig Gueguen, Celine Bris, Sophie Belal, Aurore Inisan, Aurelie Renaud, Arnaud Chevrollier, Daniel Henrion, Dominique Bonneau, Franck Letournel, Guy Lenaers, Pascal Reynier, Vincent Procaccio
Ketogenic diet (KD) which combined carbohydrate restriction and the addition of ketone bodies has emerged as an alternative metabolic intervention used as an anticonvulsant therapy or to treat different types of neurological or mitochondrial disorders including MELAS syndrome. MELAS syndrome is a severe mitochondrial disease mainly due to the m.3243A > G mitochondrial DNA mutation. The broad success of KD is due to multiple beneficial mechanisms with distinct effects of very low carbohydrates and ketones...
February 14, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29453441/circulating-cell-free-mitochondrial-dna-but-not-leukocyte-mitochondrial-dna-copy-number-is-elevated-in-major-depressive-disorder
#2
Daniel Lindqvist, Owen M Wolkowitz, Martin Picard, Lars Ohlsson, Francesco S Bersani, Johan Fernström, Åsa Westrin, Christina M Hough, Jue Lin, Victor I Reus, Elissa S Epel, Synthia H Mellon
Major depressive disorder (MDD) has been linked to mitochondrial defects, which could manifest in mitochondrial DNA (mtDNA) polymorphisms or mutations. Additionally, copy number of mtDNA (mtDNA-cn) can be quantified in peripheral blood mononuclear cells (PBMC)s, indirectly reflecting cellular energetics, or in the circulating cell-free mtDNA (ccf-mtDNA) levels, which may reflect a fraction of the mitochondrial genome released during cellular stress. Few studies have examined ccf-mtDNA in MDD, and no studies have tested its relationship with intracellular mtDNA-cn or with antidepressant treatment response...
January 30, 2018: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29447301/esophageal-squamous-cell-carcinoma-with-low-mitochondrial-copy-number-has-mesenchymal-and-stem-like-characteristics-and-contributes-to-poor-prognosis
#3
Yasunori Masuike, Koji Tanaka, Tomoki Makino, Makoto Yamasaki, Yasuhiro Miyazaki, Tsuyoshi Takahashi, Yukinori Kurokawa, Kiyokazu Nakajima, Masaki Mori, Yuichiro Doki
Alterations in mitochondrial DNA (mtDNA) copy numbers in various human cancers have been studied, but any such changes in esophageal squamous cell carcinoma (ESCC) are not established. In the present study, we investigated the correlation of mtDNA copy number with clinicopathologic features, prognosis, and malignant potential of ESCC. MtDNA copy numbers of resected specimens from 80 patients treated with radical esophagectomy were measured by quantitative real-time PCR analyses. Human ESCC cells, TE8 and TE11, were cultured, and depletion of mtDNA content was induced by knockdown of mitochondrial transcription factor A expression or treatment with ethidium bromide...
2018: PloS One
https://www.readbyqxmd.com/read/29432582/structural-rearrangements-in-the-mitochondrial-genome-of-drosophila-melanogaster-induced-by-elevated-levels-of-the-replicative-dna-helicase
#4
Grzegorz L Ciesielski, Cristina A Nadalutti, Marcos T Oliveira, Howard T Jacobs, Jack D Griffith, Laurie S Kaguni
Pathological conditions impairing functions of mitochondria often lead to compensatory upregulation of the mitochondrial DNA (mtDNA) replisome machinery, and the replicative DNA helicase appears to be a key factor in regulating mtDNA copy number. Moreover, mtDNA helicase mutations have been associated with structural rearrangements of the mitochondrial genome. To evaluate the effects of elevated levels of the mtDNA helicase on the integrity and replication of the mitochondrial genome, we overexpressed the helicase in Drosophila melanogaster Schneider cells and analyzed the mtDNA by two-dimensional neutral agarose gel electrophoresis and electron microscopy...
February 8, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29431110/the-personal-genome-project-canada-findings-from-whole-genome-sequences-of-the-inaugural-56-participants
#5
Miriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, Joe Whitney, Iris Cohn, Neal Sondheimer, Ryan K C Yuen, Brett Trost, Tara A Paton, Sergio L Pereira, Jo-Anne Herbrick, Richard F Wintle, Daniele Merico, Jennifer Howe, Jeffrey R MacDonald, Chao Lu, Thomas Nalpathamkalam, Wilson W L Sung, Zhuozhi Wang, Rohan V Patel, Giovanna Pellecchia, John Wei, Lisa J Strug, Sherilyn Bell, Barbara Kellam, Melanie M Mahtani, Anne S Bassett, Yvonne Bombard, Rosanna Weksberg, Cheryl Shuman, Ronald D Cohn, Dimitri J Stavropoulos, Sarah Bowdin, Matthew R Hildebrandt, Wei Wei, Asli Romm, Peter Pasceri, James Ellis, Peter Ray, M Stephen Meyn, Nasim Monfared, S Mohsen Hosseini, Ann M Joseph-George, Fred W Keeley, Ryan A Cook, Marc Fiume, Hin C Lee, Christian R Marshall, Jill Davies, Allison Hazell, Janet A Buchanan, Michael J Szego, Stephen W Scherer
BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. METHODS: Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant...
February 5, 2018: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/29423092/nucleoside-reverse-transcriptase-inhibitor-induced-rat-oocyte-dysfunction-and-low-fertility-mediated-by-autophagy
#6
Li Tang, Shengfu Yang, Huawei Wang, Hai Gu, Xueshan Xia, Yue Feng, Zexing Yang, Shuhua Zhao, Cunmei Su, Zhenfang Su, Kunhua Wang
Low fertility is one of the most common side effects caused by nucleoside reverse transcriptase inhibitors (NRTIs), whereas the molecular mechanism underlying this process were largely unclear. This study was conducted to investigate whether autophagy plays a role in NRTIs-induced oocyte dysfunction and low fertility in female rat. Both in vivo and in vitro experiments were conducted. For the in vivo experiment, female adult Sprague-Dawley rats were subjected to zidovudine (AZT) and lamivudine (3TC) intragastric treatment for 3, 6, 9, and 12 weeks; a control was also set...
January 9, 2018: Oncotarget
https://www.readbyqxmd.com/read/29422970/increased-copy-number-of-mitochondrial-dna-predicts-poor-prognosis-of-esophageal-squamous-cell-carcinoma
#7
Heng Li, Zhufang Tian, Yong Zhang, Qi Yang, Bingyin Shi, Peng Hou, Meiju Ji
Change in mitochondrial DNA (mtDNA) copy number has been reported in esophageal squamous cell carcinoma (ESCC). However, its prognostic implication in ESCC remains largely unknown. Using reverse transcription-quantitative PCR assay, the mtDNA copy number was assessed in a cohort of patients with ESCC (n=141) and normal esophageal tissues (n=45), and the association between variable mtDNA levels and clinical outcomes of patients with ESCC were studied. Data revealed that ESCC patients exhibited an increased mtDNA content compared to control subjects...
January 2018: Oncology Letters
https://www.readbyqxmd.com/read/29421168/associations-of-urinary-phthalate-metabolites-and-lipid-peroxidation-with-sperm-mitochondrial-dna-copy-number-and-deletions
#8
Alexandra M Huffman, Haotian Wu, Allyson Rosati, Tayyab Rahil, Cynthia K Sites, Brian W Whitcomb, J Richard Pilsner
BACKGROUND: Phthalates, a chemical class of plasticizers, are ubiquitous environmental contaminants that have been associated with oxidative stress. Mitochondria DNA copy number (mtDNAcn) and DNA deletions (mtDNAdel) are emerging biomarkers for cellular oxidative stress and environment exposures. OBJECTIVES: To examine associations of urinary phthalate metabolite and isoprostane concentrations on sperm mtDNAcn and mtDNAdel in male partners undergoing assisted reproductive technologies (ART)...
February 5, 2018: Environmental Research
https://www.readbyqxmd.com/read/29403550/morphological-and-molecular-variations-induce-mitochondrial-dysfunction-as-a-possible-underlying-mechanism-of-athletic-amenorrhea
#9
Ruo-Hong Xiong, Shi-Lei Wen, Qiang Wang, Hong-Ying Zhou, Shi Feng
Female athletes may experience difficulties in achieving pregnancy due to athletic amenorrhea (AA); however, the underlying mechanisms of AA remain unknown. The present study focuses on the mitochondrial alteration and its function in detecting the possible mechanism of AA. An AA rat model was established by excessive swimming. Hematoxylin and eosin staining, and transmission electron microscopic methods were performed to evaluate the morphological changes of the ovary, immunohistochemical examinations and radioimmunoassays were used to detect the reproductive hormones and corresponding receptors...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29400667/synergistic-protective-effects-of-mitochondrial-division-inhibitor-1-and-mitochondria-targeted-small-peptide-ss31-in-alzheimer-s-disease
#10
P Hemachandra Reddy, Maria Manczak, XiangLin Yin, Arubala P Reddy
The purpose of our study was to determine the synergistic protective effects of mitochondria-targeted antioxidant SS31 and mitochondria division inhibitor 1 (Mdivi1) in Alzheimer's disease (AD). Using biochemical methods, we assessed mitochondrial function by measuring the levels of hydrogen peroxide, lipid peroxidation, cytochrome c oxidase activity, mitochondrial ATP, and GTPase Drp1 enzymatic activity in mutant AβPP cells. Using biochemical methods, we also measured cell survival and apoptotic cell death...
January 30, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29389736/psychological-stress-and-mitochondria-a-systematic-review
#11
Martin Picard, Bruce S McEwen
OBJECTIVE: Mitochondria are multifunctional life-sustaining organelles that represent a potential intersection point between psychosocial experiences and biological stress responses. This article provides a systematic review of the effects of psychological stress on mitochondrial structure and function. METHODS: A systematic review of the literature investigating the effects of psychological stress on mitochondrial function was conducted. The review focused on experimentally controlled studies allowing us to draw causal inference about the effect of induced psychological stress on mitochondria...
February 2018: Psychosomatic Medicine
https://www.readbyqxmd.com/read/29378609/plasmodium-vivax-molecular-diagnostics-in-community-surveys-pitfalls-and-solutions
#12
REVIEW
Maria Gruenberg, Clara Antunes Moniz, Natalie Ellen Hofmann, Rahel Wampfler, Cristian Koepfli, Ivo Mueller, Wuelton Marcelo Monteiro, Marcus Lacerda, Gisely Cardoso de Melo, Andrea Kuehn, Andre M Siqueira, Ingrid Felger
A distinctive feature of Plasmodium vivax infections is the overall low parasite density in peripheral blood. Thus, identifying asymptomatic infected individuals in endemic communities requires diagnostic tests with high sensitivity. The detection limits of molecular diagnostic tests are primarily defined by the volume of blood analysed and by the copy number of the amplified molecular marker serving as the template for amplification. By using mitochondrial DNA as the multi-copy template, the detection limit can be improved more than tenfold, compared to standard 18S rRNA targets, thereby allowing detection of lower parasite densities...
January 30, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29367153/ploidy-and-number-of-chromosomes-in-the-alveolate-alga-chromera-velia
#13
Jan Vazač, Zoltán Füssy, Irena Hladová, Sireesha Killi, Miroslav Oborník
Chromera velia is an alveolate alga which represents the closest known phototrophic relative to apicomplexan parasites. Although the nuclear, mitochondrial, and plastid genomes of this alga have been sequenced, the number of chromosomes and ploidy of C. velia are unknown. We explored ploidy in the vegetative cell, the predominant stage in cultures of Chromera, using the tyramide signal amplification-fluorescence in situ hybridization (TSA-FISH) in isolated nuclei of C. velia. Probes were derived from three single copy genes coding for 4-diphosphocytidyl-2-C-methyl-D-erythritol (CDP-ME) kinase, 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEcPP) synthase and Topoisomerase II...
December 18, 2017: Protist
https://www.readbyqxmd.com/read/29365042/elevated-androgen-levels-induce-hyperinsulinemia-through-increase-in-ins1-transcription-in-pancreatic-beta-cells-in-female-rats
#14
Jay S Mishra, Amar S More, Sathish Kumar
Hyperandrogenism is associated with hyperinsulinemia and insulin resistance in adult females. We tested whether androgens dysregulate pancreatic beta cell function to induce hyperinsulinemia through transcriptional regulation of insulin gene (Ins) in the islets. Adult female Wistar rats implanted with dihydrotestosterone (DHT; 7.5-mg, 90-d release) or placebo pellets were examined after 10 weeks. DHT exposure increased plasma DHT levels by 2-fold similar to that in polycystic ovary syndrome in women. DHT exposure induced hyperinsulinemia with increased HOMA-IR index in fasting state and glucose intolerance and exaggerated insulin responses following glucose tolerance test...
January 22, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29364506/the-mitochondrial-transcription-factor-tfam-in-neurodegeneration-emerging-evidence-and-mechanisms
#15
REVIEW
Inhae Kang, Charleen T Chu, Brett A Kaufman
The mitochondrial transcription factor A, or TFAM, is a mitochondrial DNA (mtDNA) binding protein essential for genome maintenance. TFAM functions in determining the abundance of the mitochondrial genome by regulating packaging, stability, and replication. More recently, TFAM has been shown to play a central role in the mtDNA stress-mediated inflammatory response. Emerging evidence indicates that decreased mtDNA copy number is associated with several aging-related pathologies; however, little is known about the association of TFAM abundance and disease...
January 24, 2018: FEBS Letters
https://www.readbyqxmd.com/read/29361782/applications-of-probe-capture-enrichment-next-generation-sequencing-for-whole-mitochondrial-genome-and-426-nuclear-snps-for-forensically-challenging-samples
#16
Shelly Y Shih, Nikhil Bose, Anna Beatriz R Gonçalves, Henry A Erlich, Cassandra D Calloway
The application of next generation sequencing (NGS) for the analysis of mitochondrial (mt) DNA, short tandem repeats (STRs), and single nucleotide polymorphism (SNPs) has demonstrated great promise for challenging forensic specimens, such as degraded, limited, and mixed samples. Target enrichment using probe capture rather than PCR amplification offers advantages for analysis of degraded DNA since two intact PCR primer sites in the template DNA molecule are not required. Furthermore, NGS software programs can help remove PCR duplicates to determine initial template copy numbers of a shotgun library...
January 22, 2018: Genes
https://www.readbyqxmd.com/read/29361167/a-novel-mechanism-causing-imbalance-of-mitochondrial-fusion-and-fission-in-human-myopathies
#17
Marina Bartsakoulia, Angela Pyle, Diego Troncosco, Josefa Vial, Marysol V Paz-Fiblas, Jennifer Duff, Helen Griffin, Veronika Boczonadi, Hanns Lochmüller, Stephanie Kleinle, Patrick F Chinnery, Sarah Grünert, Janbernd Kirschner, Veronica Eisner, Rita Horvath
Mitochondrial dynamics play an important role in cellular homeostasis and a variety of human diseases are linked to its dysregulated function. Here we describe a 15-year-old boy with a novel disease caused by altered mitochondrial dynamics. The patient was the second child of consanguineous Jewish parents. He developed progressive muscle weakness and exercise intolerance at 6 years of age. His muscle biopsy revealed mitochondrial myopathy with numerous ragged red and cytochrome c oxidase (COX) negative fibers and combined respiratory chain complex I and IV deficiency...
January 19, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29352159/3-3-diaminobenzidine-staining-interferes-with-pcr-based-dna-analysis
#18
Christian Dölle, Laurence A Bindoff, Charalampos Tzoulis
3,3'-Diaminobenzidine (DAB) is a widely used chromogen in histological staining methods and stained tissue is often used in downstream molecular analyses such as quantitative PCR (qPCR). Using microdissected muscle fibers from sequential muscle sections stained by DAB-dependent and -independent methods, we show that DAB exerts a strong inhibitory effect on qPCR-based mitochondrial DNA quantification. This effect introduces a significant bias in the estimation of mitochondrial DNA copy number and deletion levels between DAB-positive and -negative fibers...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29348835/simultaneous-quantification-of-dna-damage-and-mitochondrial-copy-number-by-long-run-dna-damage-quantification-lord-q
#19
Benjamin Dannenmann, Simon Lehle, Sebastian Lorscheid, Stephan M Huber, Frank Essmann, Klaus Schulze-Osthoff
DNA damage and changes in the mitochondrial DNA content have been implicated in ageing and cancer development. To prevent genomic instability and tumorigenesis, cells must maintain the integrity of their nuclear and mitochondrial DNA. Advances in the research of DNA damage protection and genomic stability, however, also depend on the availability of techniques that can reliably quantify alterations of mitochondrial DNA copy numbers and DNA lesions in an accurate high-throughput manner. Unfortunately, no such method has been established yet...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29346115/mitochondrial-dysfunction-a-key-player-in-the-pathogenesis-of-cardiovascular-diseases-linked-to-air-pollution
#20
REVIEW
Sri Rahavi Boovarahan, Gino A Kurian
Air pollution has become an environmental burden with regard to non-communicable diseases, particularly heart disease. It has been reported that air pollution can accelerate the development of heart failure and atrial fibrillation. Air pollutants encompass various particulate matters (PMs), which change the blood composition and heart rate and eventually leads to cardiac failure by triggering atherosclerotic plaque ruptures or by developing irreversible ischemia. A series of major epidemiological and observational studies have established the noxious effect of air pollutants on cardiovascular diseases (CVD), but the underlying molecular mechanisms of its susceptibility and the pathological disease events remain largely elusive and are predicted to be initiated in the cell organelle...
January 18, 2018: Reviews on Environmental Health
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