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mitochondrial copy number detect

Bradley Peter, Christie L Waddington, Monika Oláhová, Ewen W Sommerville, Sila Hopton, Angela Pyle, Michael Champion, Monika Ohlson, Triinu Siibak, Zofia M A Chrzanowska-Lightowlers, Robert W Taylor, Maria Falkenberg, Robert N Lightowlers
LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively-inherited, pathogenic defects in LonP1 have been previously reported to underlie cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome, a complex multisystemic and developmental disorder. Intriguingly, although classical mitochondrial disease presentations are well-known to exhibit marked clinical heterogeneity, the skeletal and dental features associated with CODAS syndrome are pathognomonic...
March 6, 2018: Human Molecular Genetics
Z-Y Le, S Dong, R Zhang, X-P Cai, A Gao, R Xiao, H-L Yu
It was reported that high blood cholesterol levels increased the susceptibility to mitochondrial dysfunction. This study hypothesized that the gestational hypercholesterolemia (HC) could induce the mitochondrial dysfunction in term human placenta. The eligible pregnant women were recruited from Xuanwu Hospital in Beijing during their first prenatal visit (before their 10th week of pregnancy). In total, 19 pregnant women whose serum total cholesterol levels were higher than 7.25 mm at third trimester (measured at 36-38 weeks) were selected as gestational HC...
March 4, 2018: Journal of Developmental Origins of Health and Disease
Xiaoman Li, Xiaodan Zha, Yongan Wang, Rong Jia, Burong Hu, Baoquan Zhao
Proton is a major particle of space radiation environment and a prospective radiotherapy beam. However, its risk needs to be fully evaluated for the understanding and to establish the better protective strategy for astronaut and patient. Zebrafish is an ideal model for the toxicity studies on medicines and environmental genetic toxicants. In the current study, embryos of zebrafish at 24 h post-fertilization (hpf) were exposed to proton beam. Some toxic parameters of embryo-larval development were investigated...
February 23, 2018: Chemosphere
Chang Yu, Xuefeng Wang, Lifeng Huang, Ying Tong, Lili Chen, Hailong Wu, Qiang Xia, Xiaoni Kong
AIM: Accumulation of mitochondrial DNA (mtDNA) mutations has been proposed to contribute to initiation and progression of tumors. METHODS: By using high-through sequencing strategies, we measured 33 specimens including: 11 hepatocellular carcinoma (HCC) tissues, 11 corresponding adjacent tissues and 11 normal liver tissues. RESULTS: We identified 194 Single Nucleotide Variants (SNV, including insert and deletion) in 33 liver tissues. And 13 somatic novel mutations were detected, including 7 mutations in the coding region...
February 20, 2018: Gene Expression
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
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
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
M Calzetta, E Perugini, G Seixas, C A Sousa, W M Guelbeogo, N Sagnon, A Della Torre, J Pinto, M Pombi, E Mancini
Sensitive techniques for the detection of Plasmodium (Aconoidasida: Plasmodiidae) sporozoites in field-collected malaria vectors are essential for the correct assessment of risk for malaria transmission. A real-time polymerase chain reaction (RT-PCR) protocol targeting Plasmodium mtDNA proved to be much more sensitive in detecting sporozoites in mosquitoes than the widely used enzyme-linked immunosorbent assay targeting Plasmodium circumsporozoite protein (CSP-ELISA). However, because of the relatively high costs associated with equipment and reagents, RT-PCRs are mostly used to assess the outcomes of experimental infections in the frame of research experiments, rather than in routine monitoring of mosquito infection in the field...
January 18, 2018: Medical and Veterinary Entomology
Dóra Melicher, Anett Illés, Éva Pállinger, Árpád Ferenc Kovács, Levente Littvay, Ádám Domonkos Tárnoki, Dávid László Tárnoki, András Bikov, Mária Judit Molnár, Edit Irén Buzás, András Falus
Our study analyzed lymphocyte subpopulations of 32 monozygotic twins and compared the level of the catalytic reverse transcriptase protein subunit (hTERT) in T lymphocytes (Tly), helper- (Th), cytotoxic- (Tc) and regulatory T cell (Treg) subgroups. Four variables related to telomere and mitochondrial biology were simultaneously assessed, applying multi-parametric flow cytometry, TRAP-ELISA assay and qPCR standard curve method on peripheral blood mononuclear cell (PBMC) samples of genetically matched individuals...
December 30, 2017: Cellular and Molecular Life Sciences: CMLS
Gabriel R Fries, Isabelle E Bauer, Giselli Scaini, Mon-Ju Wu, Iram F Kazimi, Samira S Valvassori, Giovana Zunta-Soares, Consuelo Walss-Bass, Jair C Soares, Joao Quevedo
Bipolar disorder (BD) has been previously associated with accelerated aging; yet, the mechanisms underlying this association are largely unknown. The epigenetic clock has been increasingly recognized as a valuable aging marker, although its association with other biological clocks in BD patients and high-risk subjects, such as telomere length and mitochondrial DNA (mtDNA) copy number, has never been investigated. We included 22 patients with BD I, 16 siblings of BD patients, and 20 healthy controls in this analysis...
December 11, 2017: Translational Psychiatry
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...
January 2018: Reproductive Biomedicine Online
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
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
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
Hui-Jin Li, Xiao-Min Sun, Zheng-Kun Li, Qian-Wen Yin, Huan Pang, Jing-Jing Pan, Xu Li, Wei Chen
BACKGROUND/AIMS: This study aims to identify whether Urothelial Cancer Associated 1 (UCA1) regulates mitochondrial metabolic reprogramming in bladder cancer, and to explore how UCA1 participates in mitochondrial metabolism by the UCA1/miR-195/ARL2 signaling pathway; these findings may be aid in the development of tumor diagnostic and therapeutic strategies. METHODS: Bladder tissues were obtained from patients. Stable cell lines were constructed, with ectopic expression of UCA1 in UMUC2 cells and knockdown of UCA1 in 5637 cells...
November 1, 2017: Cellular Physiology and Biochemistry
Lu Tan, Linyun Li, Nicholas Ashbolt, Xiaolong Wang, Yuxiao Cui, Xiao Zhu, Yan Xu, Yang Yang, Daqing Mao, Yi Luo
The increasing global prevalence of antibiotic resistance genes (ARGs) in the environment is attributed to anthropogenic activities, particularly the misuse of antimicrobial drugs in human care and animal production. In the present study, we first examined Arctic/sub-Arctic (polar) sediments for the abundance and diversity of 30 ARGs against sulfonamide, tetracycline, aminoglycoside, quinolone, macrolide, and β-lactam antibiotics. Polar sediment ARGs were detected by qPCR at relatively low levels (10(-9) to 10(-5) copies/16S rRNA gene copies) compared to the reference sites, which were heavily impacted regions of China (the Haihe River, the Tianjin Water Park water and the Qilihai Wetland water, at 10(-8) to 10(-2) copies/16S rRNA gene copies)...
October 22, 2017: Science of the Total Environment
Yifan Liu, Ming Han, Xiaoshuang Li, Hui Wang, Minyue Ma, Shihui Zhang, Yifan Guo, Shuling Wang, Yuanfen Wang, Na Duan, Bing Xu, Jingwen Yin, Yuanqing Yao
STUDY QUESTION: What changes in the mitochondria of human mural granulosa cells (mGCs) with maternal aging? SUMMARY ANSWER: The mitochondrial membrane potential (MMP) and the ability of oxidative phosphorylation (OXPHOS) of mGCs declines with reproductive aging, accompanied with more abnormal mitochondria. WHAT IS KNOWN ALREADY: Mitochondria play an important role in the dialogue between the mGCs and oocytes. However, the underlying mechanism of mitochondrial dysfunction in mGCs in aging is still poorly understood...
December 1, 2017: Human Reproduction
Yiyi Zhang, Eliseo Guallar, Foram N Ashar, Ryan J Longchamps, Christina A Castellani, John Lane, Megan L Grove, Josef Coresh, Nona Sotoodehnia, Leonard Ilkhanoff, Eric Boerwinkle, Nathan Pankratz, Dan E Arking
Aims: Sudden cardiac death (SCD) is a major public health burden. Mitochondrial dysfunction has been implicated in a wide range of cardiovascular diseases including cardiomyopathy, heart failure, and arrhythmias, but it is unknown if it also contributes to SCD risk. We sought to examine the prospective association between mtDNA copy number (mtDNA-CN), a surrogate marker of mitochondrial function, and SCD risk. Methods and results: We measured baseline mtDNA-CN in 11 093 participants from the Atherosclerosis Risk in Communities (ARIC) study...
June 30, 2017: European Heart Journal
Caterina Garone, Aaron R D'Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk
Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreased mtDNA copy number (40%) were detected in muscle homogenate. Clinical features combined with low level of plasma citrulline were highly suggestive of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, however, the common m...
November 1, 2017: Human Molecular Genetics
Cleo C van Diemen, Wilhelmina S Kerstjens-Frederikse, Klasien A Bergman, Tom J de Koning, Birgit Sikkema-Raddatz, Joeri K van der Velde, Kristin M Abbott, Johanna C Herkert, Katharina Löhner, Patrick Rump, Martine T Meems-Veldhuis, Pieter B T Neerincx, Jan D H Jongbloed, Conny M van Ravenswaaij-Arts, Morris A Swertz, Richard J Sinke, Irene M van Langen, Cisca Wijmenga
BACKGROUND: Rapid diagnostic whole-genome sequencing has been explored in critically ill newborns, hoping to improve their clinical care and replace time-consuming and/or invasive diagnostic testing. A previous retrospective study in a research setting showed promising results with diagnoses in 57%, but patients were highly selected for known and likely Mendelian disorders. The aim of our prospective study was to assess the speed and yield of rapid targeted genomic diagnostics for clinical application...
October 2017: Pediatrics
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