keyword
MENU ▼
Read by QxMD icon Read
search

mitochondrial copy number detect

keyword
https://www.readbyqxmd.com/read/29344968/a-novel-nested-polymerase-chain-reaction-assay-targeting-plasmodium-mitochondrial-dna-in-field-collected-anopheles-mosquitoes
#1
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
https://www.readbyqxmd.com/read/29290038/tight-co-twin-similarity-of-monozygotic-twins-for-htert-protein-level-of-t-cell-subsets-for-telomere-length-and-mitochondrial-dna-copy-number-but-not-for-telomerase-activity
#2
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
https://www.readbyqxmd.com/read/29225347/accelerated-epigenetic-aging-and-mitochondrial-dna-copy-number-in-bipolar-disorder
#3
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
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/29187876/heteroplasmy-and-copy-number-variations-of-mitochondria-in-88-hepatocellular-carcinoma-individuals
#5
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
#6
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
#7
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/29130995/lncrna-uca1-promotes-mitochondrial-function-of-bladder-cancer-via-the-mir-195-arl2-signaling-pathway
#8
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
https://www.readbyqxmd.com/read/29070451/arctic-antibiotic-resistance-gene-contamination-a-result-of-anthropogenic-activities-and-natural-origin
#9
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
https://www.readbyqxmd.com/read/29045673/age-related-changes-in-the-mitochondria-of-human-mural-granulosa-cells
#10
Yifan Liu, Ming Han, Xiaoshuang Li, Hui Wang, Minyue Ma, Shihui Zhang, Yifan Guo, Shuling Wang, Yuanfen Wang, N 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...
October 17, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29020391/association-between-mitochondrial-dna-copy-number-and-sudden-cardiac-death-findings-from-the-atherosclerosis-risk-in-communities-study-aric
#11
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
https://www.readbyqxmd.com/read/28973171/defective-mitochondrial-rrna-methyltransferase-mrm2-causes-melas-like-clinical-syndrome
#12
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
https://www.readbyqxmd.com/read/28939701/rapid-targeted-genomics-in-critically-ill-newborns
#13
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
https://www.readbyqxmd.com/read/28936174/the-effect-of-velvet-antler-proteins-on-cardiac-microvascular-endothelial-cells-challenged-with-ischemia-hypoxia
#14
Xiang Xiao, Shuqiang Xu, Lin Li, Min Mao, Jinping Wang, Yanjun Li, Ziwei Wang, Fei Ye, Li Huang
Velvet antler (VA) is a precious traditional Chinese medicine that is capable of repeated regeneration. Based on the Chinese medicine theory of coordination the heart and kidneys, VA has been employed to treat heart diseases, including ischemic heart disease, heart failure, and arrhythmia. We examined the effects of VA proteins on primary cardiac microvascular endothelial cells (CMECs) that were subjected to ischemia-hypoxia (IH) to investigate their effects on and mechanism of action in the treatment of ischemic heart disease...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28914264/comprehensive-use-of-extended-exome-analysis-improves-diagnostic-yield-in-rare-disease-a-retrospective-survey-in-1-059-cases
#15
Gaber Bergant, Ales Maver, Luca Lovrecic, Goran Čuturilo, Alenka Hodzic, Borut Peterlin
PurposeWe sought to determine the analytical sensitivity of several extended exome variation analysis approaches in terms of their contribution to diagnostic yield and their clinical feasibility.MethodsWe retrospectively analyzed the results of genetic testing in 1,059 distinct cases referred for exome sequencing to our institution. In these, we routinely employed extended exome analysis approaches in addition to basic variant analysis, including (i) copy-number variation (CNV) detection, (ii) nonconsensus splice defect detection, (ii) genomic breakpoint detection, (iv) homozygosity mapping, and (v) mitochondrial variant analysis...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28910489/nucleoside-nucleotide-reverse-transcriptase-inhibitors-attenuate-angiogenesis-and-lymphangiogenesis-by-impairing-receptor-tyrosine-kinases-signalling-in-endothelial-cells
#16
Lin Song, Sha Ding, Zhen Ge, Xiaolong Zhu, Cong Qiu, Yuewen Wang, Enyin Lai, Weijun Yang, Yi Sun, Samson A Chow, Luyang Yu
BACKGROUND AND PURPOSE: Cardiovascular disease associated with antiretroviral therapy (ART) has become a major clinical challenge for HIV-positive patients. However, the role of ART in blood vessel growth is largely unknown. Here, we examined an integral component of ART, nucleoside/nucleotide reverse transcriptase inhibitors (NRTIs), and investigated their effects on key microvascular functions, including angiogenesis and lymphangiogenesis. EXPERIMENTAL APPROACH: The angiogenesis/lymphangiogenesis capability of endothelial cells (ECs) was evaluated using migration, proliferation and tube formation assays in vitro, and mouse ear and Matrigel plug assays in vivo...
September 14, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28851493/evaluation-of-quantitative-ftd-pneumocystis-jirovecii-kit-for-pneumocystis-infection-diagnosis
#17
Gautier Hoarau, Solène Le Gal, Patricia Zunic, Patrice Poubeau, Emmanuel Antok, Julien Jaubert, Gilles Nevez, Sandrine Picot
We evaluated the Fast track Diagnostics (FTD) Pneumocystis PCR kit, targeting the mitochondrial large subunit ribosomal RNA gene (mtLSU rRNA) of Pneumocystis jirovecii (P. jirovecii). A hundred and thirty-three patients were prospectively enrolled. Respiratory specimens were examined using both microscopy and the PCR assay. Twenty-six patients led to P. jirovecii detection. Fourteen patients presented with Pneumocystis pneumonia (PCP) whereas 12 patients were considered to be colonized. The median copy numbers in bronchoalveolar lavage fluid were significantly different in the PCP and colonization groups (1...
August 9, 2017: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/28818680/clinical-validation-of-copy-number-variant-detection-from-targeted-next-generation-sequencing-panels
#18
Jennifer Kerkhof, Laila C Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref-Eshghi, Alan Stuart, C Anthony Rupar, Paul Adams, Robert A Hegele, Hanxin Lin, David Rodenhiser, Joan Knoll, Peter J Ainsworth, Bekim Sadikovic
Next-generation sequencing (NGS) technology has rapidly replaced Sanger sequencing in the assessment of sequence variations in clinical genetics laboratories. One major limitation of current NGS approaches is the ability to detect copy number variations (CNVs) approximately >50 bp. Because these represent a major mutational burden in many genetic disorders, parallel CNV assessment using alternate supplemental methods, along with the NGS analysis, is normally required, resulting in increased labor, costs, and turnaround times...
August 15, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28810700/a-single-mini-barcode-test-to-screen-for-australian-mammalian-predators-from-environmental-samples
#19
Elodie Modave, Anna J MacDonald, Stephen D Sarre
Identification of species from trace samples is now possible through the comparison of diagnostic DNA fragments against reference DNA sequence databases. DNA detection of animals from non-invasive samples, such as predator faeces (scats) that contain traces of DNA from their species of origin, has proved to be a valuable tool for the management of elusive wildlife. However, application of this approach can be limited by the availability of appropriate genetic markers. Scat DNA is often degraded, meaning that longer DNA sequences, including standard DNA barcoding markers, are difficult to recover...
August 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28807237/mitochondrial-dysfunctions-in-bladder-cancer-exploring-their-role-as-disease-markers-and-potential-therapeutic-targets
#20
REVIEW
Antonella Cormio, Francesca Sanguedolce, Clara Musicco, Vito Pesce, Giuseppe Calò, Pantaleo Bufo, Giuseppe Carrieri, Luigi Cormio
Bladder cancer (BC) is a major cause of mortality worldwide as it currently lacks fully reliable markers of disease outcome and effective molecular targets for therapy. Mitochondria play a key role in cell metabolism but the role of mitochondrial dysfunctions in BC has been scarcely investigated. In this review, we explored current evidence for the potential role of mitochondrial DNA (mtDNA) alterations (point mutations and copy number) as disease markers in BC. Some germline mtDNA mutations detectable in blood could represent a non-invasive tool to predict the risk of developing BC...
September 2017: Critical Reviews in Oncology/hematology
keyword
keyword
106983
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"