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mitochondrial copy number detect

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https://www.readbyqxmd.com/read/28424544/association-of-genetic-variations-in-the-mitochondrial-dna-control-region-with-presbycusis
#1
Masoumeh Falah, Mohammad Farhadi, Seyed Kamran Kamrava, Saeid Mahmoudian, Ahmad Daneshi, Maryam Balali, Alimohamad Asghari, Massoud Houshmand
BACKGROUND: The prominent role of mitochondria in the generation of reactive oxygen species, cell death, and energy production contributes to the importance of this organelle in the intracellular mechanism underlying the progression of the common sensory disorder of the elderly, presbycusis. Reduced mitochondrial DNA (mtDNA) gene expression and coding region variation have frequently been reported as being associated with the development of presbycusis. The mtDNA control region regulates gene expression and replication of the genome of this organelle...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28406926/high-resolution-respirometry-of-fine-needle-muscle-biopsies-in-pre-manifest-huntington-s-disease-expansion-mutation-carriers-shows-normal-mitochondrial-respiratory-function
#2
Eva Buck, Martina Zügel, Uwe Schumann, Tamara Merz, Anja M Gumpp, Anke Witting, Jürgen M Steinacker, G Bernhard Landwehrmeyer, Patrick Weydt, Enrico Calzia, Katrin S Lindenberg
Alterations in mitochondrial respiration are an important hallmark of Huntington's disease (HD), one of the most common monogenetic causes of neurodegeneration. The ubiquitous expression of the disease causing mutant huntingtin gene raises the prospect that mitochondrial respiratory deficits can be detected in skeletal muscle. While this tissue is readily accessible in humans, transgenic animal models offer the opportunity to cross-validate findings and allow for comparisons across organs, including the brain...
2017: PloS One
https://www.readbyqxmd.com/read/28245802/characterization-of-two-novel-intronic-opa1-mutations-resulting-in-aberrant-pre-mrna-splicing
#3
Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati, André Schaller
BACKGROUND: We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitochondrial inner membrane protein are a major cause of ADOA. METHODS: We analyzed two unrelated families including four affected individuals clinically suspicious of ADOA. Standard ocular examinations were performed in affected individuals of both families...
February 28, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28242054/effects-of-methyl-and-inorganic-mercury-exposure-on-genome-homeostasis-and-mitochondrial-function-in-caenorhabditis-elegans
#4
Lauren H Wyatt, Anthony L Luz, Xiou Cao, Laura L Maurer, Ashley M Blawas, Alejandro Aballay, William K Y Pan, Joel N Meyer
Mercury toxicity mechanisms have the potential to induce DNA damage and disrupt cellular processes, like mitochondrial function. Proper mitochondrial function is important for cellular bioenergetics and immune signaling and function. Reported impacts of mercury on the nuclear genome (nDNA) are conflicting and inconclusive, and mitochondrial DNA (mtDNA) impacts are relatively unknown. In this study, we assessed genotoxic (mtDNA and nDNA), metabolic, and innate immune impacts of inorganic and organic mercury exposure in Caenorhabditis elegans...
April 2017: DNA Repair
https://www.readbyqxmd.com/read/28207937/mitochondrial-dysfunction-is-involved-in-the-aggravation-of-periodontitis-by-diabetes
#5
Xiaoyu Sun, Yixin Mao, Panpan Dai, Xumin Li, Weiyan Gu, Huining Wang, Gang Wu, Jianfeng Ma, Shengbin Huang
AIM: To elucidate whether mitochondrial dysfunction contributes to aggravated periodontitis in diabetes. MATERIALS AND METHODS: 64 wistar rats were randomly assigned into four groups: control, periodontitis, diabetes, and diabetic periodontitis. Two weeks after induction of diabetes, periodontitis was induced by silk ligation for 2 weeks and thereafter evaluated by assessing alveolar bone loss and apoptosis of periodontium cells. Mitochondrial oxidative stress was detected by MitoSOX staining...
February 16, 2017: Journal of Clinical Periodontology
https://www.readbyqxmd.com/read/28154880/accurate-quantitation-of-circulating-cell-free-mitochondrial-dna-in-plasma-by-droplet-digital-pcr
#6
Wei Ye, Xiaojun Tang, Chu Liu, Chaowei Wen, Wei Li, Jianxin Lyu
To establish a method for accurate quantitation of circulating cell-free mitochondrial DNA (ccf-mtDNA) in plasma by droplet digital PCR (ddPCR), we designed a ddPCR method to determine the copy number of ccf-mtDNA by amplifying mitochondrial ND1 (MT-ND1). To evaluate the sensitivity and specificity of the method, a recombinant pMD18-T plasmid containing MT-ND1 sequences and mtDNA-deleted (ρ(0)) HeLa cells were used, respectively. Subsequently, different plasma samples were prepared for ddPCR to evaluate the feasibility of detecting plasma ccf-mtDNA...
February 2, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28137324/heteroplasmy-due-to-coexistence-of-mtcoi-haplotypes-from-different-lineages-of-the-thrips-tabaci-cryptic-species-group
#7
S J Gawande, S Anandhan, A A Ingle, Alana Jacobson, R Asokan
Heteroplasmy is the existence of multiple mitochondrial DNA haplotypes within the cell. Although the number of reports of heteroplasmy is increasing for arthropods, the occurrence, number of variants, and origins are not well studied. In this research, the occurrence of heteroplasmy was investigated in Thrips tabaci, a putative species complex whose lineages can be distinguished by their mitochondrial DNA haplotypes. The results from this study showed that heteroplasmy was due to the occurrence of mitochondrial cytochrome oxydase I (mtCOI) haplotypes from two different T...
January 31, 2017: Bulletin of Entomological Research
https://www.readbyqxmd.com/read/28123441/liver-mitochondrial-dna-copy-number-and-deletion-levels-may-contribute-to-nonalcoholic-fatty-liver-disease-susceptibility
#8
Sharareh Kamfar, Seyed Moayed Alavian, Massoud Houshmand, Reza Yadegarazari, Bahram Seifi Zarei, Alireza Khalaj, Noshin Shabab, Massoud Saidijam
BACKGROUND: There is growing evidence that deficiencies observed in the mitochondrial DNA (mtDNA) functions could play an important role in the pathogenesis of non-alcoholic fatty liver disease (NAFLD). We hypothesized that genetic variations in mtDNA could affect the mitochondrial function and contribute to the NAFLD susceptibility. OBJECTIVES: In this study, the possible association of the mtDNA copy number and 4,977-bp deletion levels with NAFLD susceptibility in a sample of Iranian population was evaluated...
December 2016: Hepatitis Monthly
https://www.readbyqxmd.com/read/28100372/-research-on-potential-interaction-between-mitochondrial-dna-copy-number-and-related-factors-on-risk-of-hypertension-in-coal-miners
#9
J Y Guo, L J Lei, N Qiao, G Q Fan, C M Sun, J J Huang, T Wang
Objective: To investigate the effects of mitochondrial DNA (mtDNA) copy number in peripheral blood and related factors on the risk of hypertension in coal miners. Methods: A case-control study was conducted in 378 coal miners with hypertension and 325 healthy coal miners recruited from Datong Coal Mine Group. A standard questionnaire was used to collect their general information, such as demographic characteristics, habits and occupational history. Fluorescence quantitative PCR was performed to detect the copy number of mtDNA...
January 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28087734/increased-mitophagy-in-the-skeletal-muscle-of-spinal-and-bulbar-muscular-atrophy-patients
#10
Doriana Borgia, Adriana Malena, Marco Spinazzi, Maria Andrea Desbats, Leonardo Salviati, Aaron P Russell, Giovanni Miotto, Laura Tosatto, Elena Pegoraro, Gianni Sorarù, Maria Pennuto, Lodovica Vergani
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients...
March 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/27959428/expression-pattern-of-dkk3-dickkopf-wnt-signaling-pathway-inhibitor%C3%A2-3-in-the-malignant-progression-of-oral-submucous-fibrosis
#11
Shanghui Zhou, Yun Zhu, Mubarak Mashrah, Xinyu Zhang, Zhijing He, Zhigang Yao, Chunye Zhang, Feng Guo, Yongjie Hu, Chenping Zhang
Oral squamous cell carcinoma (OSCC) is a common malignant neoplasm of the head and neck. Oral submucous fibrosis (OSF) is one of its pre-cancerous lesions; however, the key molecular events in the tumorigenesis of OSF remain elusive. Dickkopf WNT signaling pathway inhibitor 3 (DKK3) is one of the Wnt antagonists, and its downregulation and methylation have been reported in multiple malignancies, while no report of its expression in the carcinogenesis of OSF exists. In the present study, we investigated DKK3 expression at the protein and mRNA levels by immunochemical staining and semi‑quantitative RT-PCR in normal oral, OSF and OSCC tissues...
February 2017: Oncology Reports
https://www.readbyqxmd.com/read/27941687/low-dose-methylmercury-induced-genes-regulate-mitochondrial-biogenesis-via-mir-25-in-immortalized-human-embryonic-neural-progenitor-cells
#12
Xinjin Wang, Mengling Yan, Lina Zhao, Qing Wu, Chunhua Wu, Xiuli Chang, Zhijun Zhou
Mitochondria are essential organelles and important targets for environmental pollutants. The detection of mitochondrial biogenesis and generation of reactive oxygen species (ROS) and p53 levels following low-dose methylmercury (MeHg) exposure could expand our understanding of underlying mechanisms. Here, the sensitivity of immortalized human neural progenitor cells (ihNPCs) upon exposure to MeHg was investigated. We found that MeHg altered cell viability and the number of 5-ethynyl-2'-deoxyuridine (EdU)-positive cells...
December 9, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27937004/detecting-signatures-of-selection-within-the-tibetan-sheep-mitochondrial-genome
#13
Lili Niu, Xiaoyong Chen, Ping Xiao, Qianjun Zhao, Jingxuan Zhou, Jiangtao Hu, Hongxin Sun, Jiazhong Guo, Li Li, Linjie Wang, Hongping Zhang, Tao Zhong
Tibetan sheep, a Chinese indigenous breed, are mainly distributed in plateau and mountain-valley areas at a terrestrial elevation between 2260 and 4100 m. The herd is genetically distinct from the other domestic sheep and undergoes acclimatization to adapt to the hypoxic environment. To date, whether the mitochondrial DNA modification of Tibetan sheep shares the same feature as the other domestic breed remains unknown. In this study, we compared the whole mitogenome sequences from 32 Tibetan sheep, 22 domestic sheep and 24 commercial sheep to identify the selection signatures of hypoxic-tolerant in Tibetan sheep...
December 10, 2016: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/27906110/failed-upregulation-of-tfam-protein-and-mitochondrial-dna-in-oxidatively-deficient-fibers-of-chronic-obstructive-pulmonary-disease-locomotor-muscle
#14
Yana Konokhova, Sally Spendiff, R Thomas Jagoe, Sudhakar Aare, Sophia Kapchinsky, Norah J MacMillan, Paul Rozakis, Martin Picard, Mylène Aubertin-Leheudre, Charlotte H Pion, Jean Bourbeau, Russell T Hepple, Tanja Taivassalo
BACKGROUND: Low mitochondrial content and oxidative capacity are well-established features of locomotor muscle dysfunction, a prevalent and debilitating systemic occurrence in patients with chronic obstructive pulmonary disease (COPD). Although the exact cause is not firmly established, physical inactivity and oxidative stress are among the proposed underlying mechanisms. Here, we assess the impact of COPD pathophysiology on mitochondrial DNA (mtDNA) integrity, biogenesis, and cellular oxidative capacity in locomotor muscle of COPD patients and healthy controls...
February 18, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27804894/nuclear-and-mitochondrial-dna-analysis-reveals-that-hybridization-between-fasciola-hepatica-and-fasciola-gigantica-occurred-in-china
#15
Madoka Ichikawa-Seki, Mao Peng, Kei Hayashi, Takuya Shoriki, Uday Kumar Mohanta, Toshiyuki Shibahara, Tadashi Itagaki
The well-known pathogens of fasciolosis, Fasciola hepatica (Fh) and Fasciola Gigantica (Fg), possess abundant mature sperms in their seminal vesicles, and thus, they reproduce bisexually. On the other hand, aspermic Fasciola flukes reported from Asian countries, which have no sperm in their seminal vesicles, probably reproduce parthenogenetically. The aim of this study was to reveal the origin of aspermic Fasciola flukes. The nuclear single copy markers, phosphoenolpyruvate carboxykinase and DNA polymerase delta, were employed for analysis of Fasciola species from China...
February 2017: Parasitology
https://www.readbyqxmd.com/read/27802198/variable-alterations-of-mitochondrial-microsatellite-instability-and-dna-copy-number-in-pulmonary-hamartomas
#16
Deok Heon Lee, Jae-Ho Lee, Dong Yoon Keum, Dae-Kwang Kim
BACKGROUND: The genetic alteration of mitochondrial DNA has been regarded as an important step in the development of several human tumors. OBJECTIVE: The purpose of this study was to identify frequency of mitochondrial microsatellite instability (mtMSI) and alterations in mitochondrial DNA copy number (mtCN) in pulmonary hamartoma. METHODS: DNA was isolated from tumor tissue and matched non-tumor tissue in 30 patients with pulmonary hamartoma...
2016: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/27799778/the-potential-role-for-use-of-mitochondrial-dna-copy-number-as-predictive-biomarker-in-presbycusis
#17
Masoumeh Falah, Massoud Houshmand, Mohammad Najafi, Maryam Balali, Saeid Mahmoudian, Alimohamad Asghari, Hessamaldin Emamdjomeh, Mohammad Farhadi
OBJECTIVES: Age-related hearing impairment, or presbycusis, is the most common communication disorder and neurodegenerative disease in the elderly. Its prevalence is expected to increase, due to the trend of growth of the elderly population. The current diagnostic test for detection of presbycusis is implemented after there has been a change in hearing sensitivity. Identification of a pre-diagnostic biomarker would raise the possibility of preserving hearing sensitivity before damage occurs...
2016: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/27770035/replication-errors-made-during-oogenesis-lead-to-detectable-de-novo-mtdna-mutations-in-zebrafish-oocytes-with-a-low-mtdna-copy-number
#18
Auke B C Otten, Alphons P M Stassen, Michiel Adriaens, Mike Gerards, Richard G J Dohmen, Adriana J Timmer, Sabina J V Vanherle, Rick Kamps, Iris B W Boesten, Jo M Vanoevelen, Marc Muller, Hubert J M Smeets
Of all pathogenic mitochondrial DNA (mtDNA) mutations in humans, ∼25% is de novo, although the occurrence in oocytes has never been directly assessed. We used next-generation sequencing to detect point mutations directly in the mtDNA of 3-15 individual mature oocytes and three somatic tissues from eight zebrafish females. Various statistical and biological filters allowed reliable detection of de novo variants with heteroplasmy ≥1.5%. In total, we detected 38 de novo base substitutions, but no insertions or deletions...
December 2016: Genetics
https://www.readbyqxmd.com/read/27735863/a-comprehensive-characterization-of-mitochondrial-genome-in-papillary-thyroid-cancer
#19
Xingyun Su, Weibin Wang, Guodong Ruan, Min Liang, Jing Zheng, Ye Chen, Huiling Wu, Thomas J Fahey, Minxin Guan, Lisong Teng
Nuclear genetic alterations have been widely investigated in papillary thyroid cancer (PTC), however, the characteristics of the mitochondrial genome remain uncertain. We sequenced the entire mitochondrial genome of 66 PTCs, 16 normal thyroid tissues and 376 blood samples of healthy individuals. There were 2508 variations (543 sites) detected in PTCs, among which 33 variations were novel. Nearly half of the PTCs (31/66) had heteroplasmic variations. Among the 31 PTCs, 28 specimens harbored a total of 52 somatic mutations distributed in 44 sites...
October 10, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27672381/copy-number-variation-of-mitochondrial-dna-genes-in-pneumocystis-jirovecii-according-to-the-fungal-load-in-bal-specimens
#20
Clara Valero, María José Buitrago, Maud Gits-Muselli, Marion Benazra, Aude Sturny-Leclère, Samia Hamane, Nicolas Guigue, Stéphane Bretagne, Alexandre Alanio
Pneumocystis jirovecii is an unculturable fungus and the causative agent of Pneumocystis pneumonia, a life-threatening opportunistic infection. Although molecular diagnosis is often based on the detection of mtLSU rRNA mitochondrial gene, the number of copies of mitochondrial genes had not been investigated. We developed and optimized six real-time PCR assays in order to determine the copy number of four mitochondrial genes (mtSSU rRNA, mtLSU rRNA, NAD1, and CYTB) in comparison to nuclear genome (DHPS and HSP70) and tested 84 bronchoalveolar fluids of patients at different stages of the infection...
2016: Frontiers in Microbiology
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