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https://www.readbyqxmd.com/read/29217198/clinical-molecular-and-computational-analysis-in-two-cases-with-mitochondrial-encephalomyopathy-associated-with-suclg1-mutation-in-a-consanguineous-family
#1
Marwa Maalej, Amel Tej, Jihène Bouguila, Samia Tilouche, Senda Majdoub, Boudour Khabou, Mouna Tabbebi, Rahma Felhi, Marwa Ammar, Emna Mkaouar-Rebai, Leila Keskes, Lamia Boughamoura, Faiza Fakhfakh
Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (β subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c...
December 4, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29203860/adipose-tissue-mitochondrial-capacity-associates-with-long-term-weight-loss-success
#2
R Jokinen, R Rinnankoski-Tuikka, S Kaye, L Saarinen, S Heinonen, M Myöhänen, E Rappou, S Jukarainen, A Rissanen, A Pessia, V Velagapudi, K A Virtanen, E Pirinen, K H Pietiläinen
OBJECTIVES: We investigated whether (1) subcutaneous adipose tissue (SAT) mitochondrial capacity predicts weight loss success and (2) weight loss ameliorates obesity-related SAT mitochondrial abnormalities. METHODS: SAT biopsies were obtained from 19 clinically healthy obese subjects (BMI 34.6±2.7 kg/m2) during a weight-loss intervention (0, 5, and 12 months) and from 19 lean reference subjects (BMI 22.7±1.1 kg/m2) at baseline. Based on one-year weight loss outcome, the subjects were divided into two groups: continuous weight losers (WL, n=6) and weight regainers (WR, n=13)...
December 5, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29203401/skeletal-muscle-from-aged-american-quarter-horses-shows-impairments-in-mitochondrial-biogenesis-and-expression-of-autophagy-markers
#3
Chengcheng Li, Sarah H White, Lori K Warren, Stephanie E Wohlgemuth
Aging is associated with decreased mitochondrial content and function in skeletal muscle, possibly due to compromised biogenesis and autophagic removal of dysfunctional mitochondria. The aim of this study was to compare markers of mitochondrial content and biogenesis and of autophagy between skeletal muscle from young and aged American Quarter Horses. Citrate synthase protein and mtDNA copy number were decreased in triceps brachii (TB) muscle (P<0.05) from aged horses, suggesting an age-related decline in mitochondrial content...
December 1, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/29203383/comprehensive-chromosomal-and-mitochondrial-copy-number-profiling-in-human-ivf-embryos
#4
Wei Shang, Yunshan Zhang, Mingming Shu, Weizhou Wang, Likun Ren, Fu Chen, Lin Shao, Sijia Lu, Shiping Bo, Shujie Ma, Yumei Gao
Single cell whole genome sequencing helps to decipher the genome heterogeneity within a cell population and facilitates the analysis of trace amounts of genetic material, such as is found in human embryos. The mitochondrial genome, although an important part of the genetic composition of eukaryotic cells, is often neglected in single cell genome analysis. A recently developed single cell whole genome amplification method was used, known as multiple annealing and looping based amplification cycles (MALBAC-NGS), for simultaneous analysis of chromosomal and mitochondrial genomes at the single cell level...
November 8, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29202419/ultrafine-particulate-matter-impairs-mitochondrial-redox-homeostasis-and-activates-phosphatidylinositol-3-kinase-mediated-dna-damage-responses-in-lymphocytes
#5
Arpit Bhargava, Shivani Tamrakar, Aniket Aglawe, Harsha Lad, Rupesh Kumar Srivastava, Dinesh Kumar Mishra, Rajnarayan Tiwari, Koel Chaudhury, Irina Yu Goryacheva, Pradyumna Kumar Mishra
Particulate matter (PM), broadly defined as coarse (2.5-10 μm), fine (0.1-2.5 μm) and ultrafine particles (≤0.1 μm), is a major constituent of ambient air pollution. Recent studies have linked PM exposure (coarse and fine particles) with several human diseases including cancer. However, the molecular mechanisms underlying ultrafine PM exposure induced cellular and sub-cellular repercussions are ill-defined. Since mitochondria are one of the major targets of different environmental pollutants, we herein aimed to understand the molecular repercussion of ultrafine PM exposure on mitochondrial machinery in peripheral blood lymphocytes...
December 1, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/29202295/constitutive-map-kinase-activation-suppresses-germline-apoptosis-in-nth-1-dna-glycosylase-deficient-c-elegans
#6
Henok Kassahun, Tanima SenGupta, Alfonso Schiavi, Silvia Maglioni, Hanne K Skjeldam, Katarzyna Arczewska, Nicole L Brockway, Suzanne Estes, Lars Eide, Natascia Ventura, Hilde Nilsen
Oxidation of DNA bases, an inevitable consequence of oxidative stress, requires the base excision repair (BER) pathway for repair. Caenorhabditis elegans is a well-established model to study phenotypic consequences and cellular responses to oxidative stress. To better understand how BER affects phenotypes associated with oxidative stress, we characterised the C. elegans nth-1 mutant, which lack the only DNA glycosylase dedicated to repair of oxidative DNA base damage, the NTH-1 DNA glycosylase. We show that nth-1 mutants have mitochondrial dysfunction characterised by lower mitochondrial DNA copy number, reduced mitochondrial membrane potential, and increased steady-state levels of reactive oxygen species...
November 29, 2017: DNA Repair
https://www.readbyqxmd.com/read/29201664/vitrification-of-mouse-mii-oocyte-decreases-the-mitochondrial-dna-copy-number-tfam-gene-expression-and-mitochondrial-enzyme-activity
#7
Mahboobeh Amoushahi, Mojdeh Salehnia, Seyed Javad Mowla
Background: The objective of this study was determination of the changes in the reactive oxygen species (ROS) level, mitochondrial DNA (mtDNA) copy number and enzyme activity and transcription factor A (TFAM) gene expression in oocytes after vitrification. Methods: The oocytes at metaphase II (MII) stage (n=320) were collected from super-ovulated adult female mice (n=40). These oocytes were divided into vitrified and non-vitrified groups (n=160 in each group). After vitrification of oocytes, ROS level, mtDNA copy number; TFAM gene expression and mitochondrial enzymes activity (cytochrome C oxidase and succinate dehydrogenase) were assessed and compared with non-vitrified group...
October 2017: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/29200830/notoginsenoside-r1-attenuates-high-glucose-induced-endothelial-damage-in-rat-retinal-capillary-endothelial-cells-by-modulating-the-intracellular-redox-state
#8
Chunlan Fan, Yuan Qiao, Minke Tang
The aim of this study was to examine whether Notoginsenoside R1 (NR1) attenuates high glucose-induced cell damage in rat retinal capillary endothelial cells (RCECs) and to explore the mechanisms involved. The exposure of rat RCECs to high concentration of glucose (30 mM) for 72 h led to significant cytotoxicity, including decreased cell viability, reduced mitochondrial DNA copy number, increased lactate dehydrogenase release and elevated apoptosis. NR1, when present in the culture medium, markedly attenuated the high glucose-induced cytotoxicity in rat RCECs...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/29189636/mitochondrial-fusion-and-fission-proteins-and-the-recognition-memory-of-imprinting-in-domestic-chicks
#9
Giorgi Margvelani, Maia Meparishvili, Ekaterine Tevdoradze, Brian J McCabe, Revaz Solomonia
Visual imprinting is a learning process through which young, visually naive animals come to recognize a visual stimulus by being exposed to it (training) and subsequently approach the stimulus in preference to others. A large body of evidence indicates that a restricted part of the forebrain, the intermediate medial mesopallium (IMM), is a memory region for visual imprinting in the domestic chick. Previous studies have shown learning-related up-regulation of several mitochondrial proteins in the IMM 24 h after training...
November 17, 2017: Neuroreport
https://www.readbyqxmd.com/read/29187876/heteroplasmy-and-copy-number-variations-of-mitochondria-in-88-hepatocellular-carcinoma-individuals
#10
Weiyang Li, Yanwei Qi, Xiaofang Cui, Yuhui Sun, Qing Huo, Yan Yang, Xinyuan Wen, Meihua Tan, Shiyi Du, Huali Zhang, Meng Zhang, Chuanxin Liu, Qingsheng Kong
Hepatocellular carcinoma (HCC) is the third leading cause of cancer mortality worldwide. In this study, we had analysed the copy number variations and heteroplasmic mutations of mitochondria (MT) in 88 HCC individuals. The average copy number of MT genome in normal samples was significantly greater than that in tumor samples. Overall, the number of heteroplasmic mutations in 88 tumor and their matched normal samples were 241 and 173, respectively. There was higher positive ratio of heteroplasmic mutations in tumor samples (86%) than normal samples (73%)...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29182103/association-of-mitochondrial-copy-number-variation-and-t16189c-polymorphism-with-colorectal-cancer-in-north-indian-population
#11
Bhupender Kumar, Zafar Iqbal Bhat, Savita Bansal, Sunil Saini, Afreen Naseem, Khushnuma Wahabi, Archana Burman, Geeta Trilok Kumar, Sundeep Singh Saluja, M Moshahid Alam Rizvi
Globally, colorectal cancer is the third most common type of cancer. Genetic instability leading to cancer development is one of the major causes for development of cancer. Alterations in mitochondrial genome, that is, mutations, single-nucleotide polymorphisms, and copy number variations are known to contribute in cancer development. The aim of our study was to investigate association of mitochondrial T16189C polymorphism and copy number variation with colorectal cancer in North Indian population. DNA isolated from peripheral blood of 126 colorectal cancer patients and 114 healthy North Indian subjects was analyzed for T16189C polymorphism and half of them for mitochondrial copy number variation...
November 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/29179273/-relationship-between-mitochondrial-dna-copy-number-membrane-potential-of-human-embryo-and-embryo-morphology
#12
H Zhao, X M Teng, Y F Li
Objective: To explore the relationship between the embryo with the different morphological types in the third day and its mitochondrial copy number, the membrane potential. Methods: Totally 117 embryos with poor development after normal fertilization and were not suitable transferred in the fresh cycle and 106 frozen embryos that were discarded voluntarily by infertility patients with in vitro fertilization-embryo transfer after successful pregnancy were selected. According to evaluation of international standard in embryos, all cleavage stage embryos were divided into class Ⅰ frozen embryo group (n=64), class Ⅱ frozen embryo group (n=42) and class Ⅲ fresh embryonic group (not transplanted embryos; n=117)...
November 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29178066/mitochondrial-dna-in-lung-cancer
#13
Fangming Liu, David E Sanin, Xiangdong Wang
Mitochondrial DNA (mtDNA) variations are increasingly discovered and expected to be potential biomarkers to monitor severity, duration, stage, response to therapy, and prognosis in patients with lung cancer. The present article illustrates alterations of mtDNA in lung cancer, including alterations of mtDNA copy number and sequence mutations, as well as their possible mechanisms for carcinogenesis and development of lung cancer. The clear and comprehensive relationships between mtDNA variations and lung cancer are to be further confirmed to benefit effective strategies for lung cancer diagnosis and therapy...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29166659/sex-specific-influences-of-mtdna-mitotype-and-diet-on-mitochondrial-functions-and-physiological-traits-in-drosophila-melanogaster
#14
Wen C Aw, Michael R Garvin, Richard G Melvin, J William O Ballard
Here we determine the sex-specific influence of mtDNA type (mitotype) and diet on mitochondrial functions and physiology in two Drosophila melanogaster lines. In many species, males and females differ in aspects of their energy production. These sex-specific influences may be caused by differences in evolutionary history and physiological functions. We predicted the influence of mtDNA mutations should be stronger in males than females as a result of the organelle's maternal mode of inheritance in the majority of metazoans...
2017: PloS One
https://www.readbyqxmd.com/read/29165562/the-diversity-of-recent-and-ancient-human-dream-a-new-microarray-for-genetic-anthropology-and-genealogy-forensics-and-personalized-medicine
#15
Eran Elhaik, Leeban Yusuf, Ainan I J Anderson, Mehdi Pirooznia, Dimitrios Arnellos, Gregory Vilshansky, Gunes Ercal, Yontao Lu, Teresa Webster, Michael L Baird, Umberto Esposito
The human population displays wide variety in demographic history, ancestry, content of DNA derived from hominins or ancient populations, adaptation, traits, copy number variation (CNVs), drug response, and more. These polymorphisms are of broad interest to population geneticists, forensics investigators, and medical professionals. Historically, much of that knowledge was gained from population survey projects. While many commercial arrays exist for genome-wide single-nucleotide polymorphism (SNP) genotyping, their design specifications are limited and they do not allow a full exploration of biodiversity...
November 20, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29157198/independent-impacts-of-aging-on-mitochondrial-dna-quantity-and-quality-in-humans
#16
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/29155328/mitochondrial-trna-leu-uur-c3275t-trna-gln-t4363c-and-trna-lys-a8343g-mutations-may-be-associated-with-pcos-and-metabolic-syndrome
#17
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/29149768/mitochondrial-dna-changes-in-pedunculopontine-cholinergic-neurons-in-parkinson-s
#18
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/29147009/mitochondrial-uqcrb-as-a-new-molecular-prognostic-biomarker-of-human-colorectal-cancer
#19
Hyun-Chul Kim, Junghwa Chang, Hannah S Lee, Ho Jeong Kwon
Ubiquinol cytochrome c reductase binding protein (UQCRB) is important for mitochondrial complex III stability, electron transport, cellular oxygen sensing and angiogenesis. However, its potential as a prognostic marker in colorectal cancer (CRC) remains unclear. The aim of this study was to determine whether UQCRB can be used as a diagnostic molecular marker for CRC. The correlation between the expression of three genes (UQCRB, UQCRFS1 and MT-CYB) in the mitochondrial respiratory chain complex III and clinico-pathological features was determined...
November 17, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29145655/paternal-exposure-to-environmental-chemical-stress-affectsmale-offspring-s-hepatic-mitochondria
#20
Roger Godschalk, Alex Remels, Camiel Hoogendoorn, Jan van Benthem, Mirjam Luijten, Nur Duale, Gunnar Brunborg, Ann-Karin Olsen, Freek G Bouwman, Armelle Munnia, Marco Peluso, Edwin Mariman, Frederik Jan van Schooten
Pre-conceptional paternal exposures may affect offspring's health, which cannot be explained by mutations in germ cells, but by persistent changes in the regulation of gene expression. Therefore, we investigated whether pre-conceptional paternal exposure to benzo[a]pyrene (B[a]P) could alter the offspring's phenotype. Male C57BL/6 mice were exposed to B[a]P by gavage for 6 weeks, 3x per week, and were crossed with unexposed BALB-c females 6 weeks after the final exposure. The offspring was kept under normal feeding conditions and was sacrificed at 3 weeks of age...
November 14, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
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