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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
#1
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/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#2
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27900071/association-between-leukocyte-mitochondrial-dna-copy-number-and-regular-exercise-in-postmenopausal-women
#3
Yu Kyung Chang, Da Eun Kim, Soo Hyun Cho, Jung-Ha Kim
BACKGROUND: Previous studies suggest that habitual exercise can improve skeletal mitochondrial function; however, to date, the association between exercise and mitochondrial function in peripheral leukocytes has not been reported. The aim of this study was to evaluate the relationship between regular exercise and mitochondrial function by measuring leukocyte mitochondrial DNA (mtDNA) copy number in postmenopausal women. METHODS: This cross-sectional study included 144 relatively healthy, non-diabetic, non-smoking, postmenopausal women...
November 2016: Korean Journal of Family Medicine
https://www.readbyqxmd.com/read/27896503/effect-of-pgc-1%C3%AE-overexpression-or-silencing-on-mitochondrial-apoptosis-of-goat-luteinized-granulosa-cells
#4
Guo-Min Zhang, Ming-Tian Deng, Yan-Li Zhang, Yi-Xuan Fan, Yong-Jie Wan, Hai-Tao Nie, Zi-Yu Wang, Feng Wang, Zhi-Hai Lei
During goat follicular development, abnormal expression of peroxisome proliferator- activated receptor gamma coactivator-1 alpha (PGC-1α) in granulosa cells (GCs) may contribute to follicular atresia with unknown regulatory mechanisms. In this study, we investigate the effect of ectopic expression or interference of PGC-1α on cell apoptosis of goat first passage granulosa cells (FGCs) in vitro. The results indicate that PGC-1α silencing by short hairpin RNA (shRNA) in goat FGCs significantly reduced mitochondrial DNA (mtDNA) copy number (P < 0...
November 28, 2016: Journal of Bioenergetics and Biomembranes
https://www.readbyqxmd.com/read/27894409/the-effects-of-mitochondrial-dna-deletion-and-copy-number-variations-on-different-exercise-intensities-in-highly-trained-swimmers
#5
O Baykara, S K Sahin, F Akbas, M Guven, I Onaran
It has been suggested that heavy exercise might increase oxidative stress, causing mitochondrial DNA (mtDNA) mutations as well as DNA mutations and changes in the mtDNA copy number in cells. mtDNA4977 deletion is one of the most common deletions seen on mitochondria. We hypothesize association between exercise induced oxidative stress and mtDNA damage in peripheral blood lymphocytes (PBLs) of highly trained swimmers. Therefore we studied the mtDNA4977 deletion level, mtDNA copy number and their relationship with cellular ATP and oxidative stress status in PBLs of swimmers...
October 31, 2016: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/27887690/relation-of-mitochondrial-dna-copy-number-in-peripheral-blood-to-postoperative-atrial-fibrillation-after-isolated-off-pump-coronary-artery-bypass-grafting
#6
Jian Zhang, Shu Xu, Yinli Xu, Yu Liu, Zhi Li, Yuji Zhang, Yan Jin, Xiaodong Xue, Huishan Wang
Oxidative stress has been considered to be an important factor contributing to postoperative atrial fibrillation (PoAF). Mitochondrial DNA (mtDNA) copy number in peripheral blood has been found to be associated with a patient's oxidative stress. Therefore, we sought to determine whether there was association between mtDNA copy number and the onset of atrial fibrillation. mtDNA copy numbers were measured using the quantitative real-time polymerase chain reaction in peripheral blood from 485 consecutive patients with sinus rhythm undergoing coronary artery bypass grafting...
November 1, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27874000/defective-mitochondrial-dna-homeostasis-in-the-substantia-nigra-in-parkinson-disease
#7
Christian Dölle, Irene Flønes, Gonzalo S Nido, Hrvoje Miletic, Nelson Osuagwu, Stine Kristoffersen, Peer K Lilleng, Jan Petter Larsen, Ole-Bjørn Tysnes, Kristoffer Haugarvoll, Laurence A Bindoff, Charalampos Tzoulis
Increased somatic mitochondrial DNA (mtDNA) mutagenesis causes premature aging in mice, and mtDNA damage accumulates in the human brain with aging and neurodegenerative disorders such as Parkinson disease (PD). Here, we study the complete spectrum of mtDNA changes, including deletions, copy-number variation and point mutations, in single neurons from the dopaminergic substantia nigra and other brain areas of individuals with Parkinson disease and neurologically healthy controls. We show that in dopaminergic substantia nigra neurons of healthy individuals, mtDNA copy number increases with age, maintaining the pool of wild-type mtDNA population in spite of accumulating deletions...
November 22, 2016: Nature Communications
https://www.readbyqxmd.com/read/27857175/elevated-mitochondrial-dna-copy-number-in-peripheral-blood-and-tissue-predict-the-opposite-outcome-of-cancer-a-meta-analysis
#8
Nan Chen, Shu Wen, Xiaoru Sun, Qian Fang, Lin Huang, Shuai Liu, Wanling Li, Meng Qiu
Previous studies have suggested that mitochondrial DNA (mtDNA) copy number was associated with cancer risk. However, no solid conclusion revealed the potential predictive value of mtDNA copy number for cancer prognosis. The present meta-analysis was performed to clarify the problem. Hence, we performed a systematic search in PubMed, EmBase, Web of Science databases independently and a total of eighteen studies comprising 3961 cases satisfied the criteria and finally enrolled. Our results didn't show the association between them but significant heterogeneity in overall analysis (OS: HR = 0...
November 18, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27822413/mir-106b-mediated-mfn2-suppression-is-critical-for-pkm2-induced-mitochondrial-fusion
#9
Haili Wu, Zhuoyu Li, Yingying Wang, Peng Yang, Zongrui Li, Hanqing Li, Changxin Wu
Cancer cells preferentially metabolize glucose through aerobic glycolysis. This phenomenon, known as the Warburg effect, is a characteristic of glucose metabolism in cancer cells. PKM2 is reported to imply an important role in glycolysis. However, whether and how PKM2 can cause mitochondrial dysfunction, then subsequently forcing cancer cells using glycolysis instead of oxidation phosphorylation is poorly understood. Here we reported that overexpression of PKM2 disrupted mitochondrial dynamics by enhancing fusion...
2016: American Journal of Cancer Research
https://www.readbyqxmd.com/read/27819115/the-alterations-in-mitochondrial-dna-copy-number-and-nuclear-encoded-mitochondrial-genes-in-rat-brain-structures-after-cocaine-self-administration
#10
Anna Sadakierska-Chudy, Agnieszka Kotarska, Małgorzata Frankowska, Joanna Jastrzębska, Karolina Wydra, Joanna Miszkiel, Edmund Przegaliński, Małgorzata Filip
The repeated intake of cocaine evokes oxidative stress that is present even during drug withdrawal. Recent studies demonstrate that cocaine-induced oxidative and/or endoplasmic reticulum stress can affect mitochondrial function and dynamics as well as the expression of mitochondrial and nuclear genes. These alterations in mitochondrial function may determine synaptic and behavioral plasticity. Mitochondria and mitochondrial DNA (mtDNA) seem to play an important role in the initiation of drug addiction. We used a microarray approach to investigate the expression patterns of nuclear-encoded genes relevant for mitochondrial functions and quantitative real-time PCR assays to determine the numbers of copies of mtDNA and of mRNAs corresponding to two mitochondrial proteins in the prefrontal cortex and hippocampus of rats during early cocaine abstinence...
November 7, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27815040/the-addition-of-ketone-bodies-alleviates-mitochondrial-dysfunction-by-restoring-complex-i-assembly-in-a-melas-cellular-model
#11
Samuel Frey, Guillaume Geffroy, Valerie Desquiret-Dumas, Naig Gueguen, Celine Bris, Sophie Belal, Patrizia Amati-Bonneau, Arnaud Chevrollier, Magalie Barth, Daniel Henrion, Guy Lenaers, Dominique Bonneau, Pascal Reynier, Vincent Procaccio
Ketogenic Diet used to treat refractory epilepsy for almost a century may represent a treatment option for mitochondrial disorders for which effective treatments are still lacking. Mitochondrial complex I deficiencies are involved in a broad spectrum of inherited diseases including Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes syndrome leading to recurrent cerebral insults resembling strokes and associated with a severe complex I deficiency caused by mitochondrial DNA (mtDNA) mutations...
November 1, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27812116/ancient-out-of-africa-mitochondrial-dna-variants-associate-with-distinct-mitochondrial-gene-expression-patterns
#12
Tal Cohen, Liron Levin, Dan Mishmar
Mitochondrial DNA (mtDNA) variants have been traditionally used as markers to trace ancient population migrations. Although experiments relying on model organisms and cytoplasmic hybrids, as well as disease association studies, have served to underline the functionality of certain mtDNA SNPs, only little is known of the regulatory impact of ancient mtDNA variants, especially in terms of gene expression. By analyzing RNA-seq data of 454 lymphoblast cell lines from the 1000 Genomes Project, we found that mtDNA variants defining the most common African genetic background, the L haplogroup, exhibit a distinct overall mtDNA gene expression pattern, which was independent of mtDNA copy numbers...
November 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27806667/genetic-variations-related-to-maternal-whole-blood-mitochondrial-dna-copy-number-a-genome-wide-and-candidate-gene-study
#13
Tsegaselassie Workalemahu, Daniel A Enquobahrie, Mahlet G Tadesse, Karin Hevner, Bizu Gelaye, Sixto Sanchez, Michelle A Williams
We conducted genome-wide (GWAS) and candidate gene association studies of maternal mitochondrial DNA copy number. Maternal peripheral blood was collected during labor and delivery admission from 471 participants of a placental abruption case-control study conducted in Lima, Peru. SNP genotyping was performed using the Illumina Cardio-Metabo Chip. Whole blood mtDNA copy number was measured using qRT-PCR techniques. We evaluated 119,629 SNPs in the GWAS and 161 SNPs (in 29 mitochondrial biogenesis and oxidative phosphorylation genes) in the candidate association study...
November 2, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27804894/nuclear-and-mitochondrial-dna-analysis-reveals-that-hybridization-between-fasciola-hepatica-and-fasciola-gigantica-occurred-in-china
#14
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...
November 2, 2016: Parasitology
https://www.readbyqxmd.com/read/27802198/variable-alterations-of-mitochondrial-microsatellite-instability-and-dna-copy-number-in-pulmonary-hamartomas
#15
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...
September 30, 2016: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/27801666/overexpression-of-pkm2-promotes-mitochondrial-fusion-through-attenuated-p53-stability
#16
Haili Wu, Peng Yang, Wanglai Hu, Yingying Wang, Yangxu Lu, Lichao Zhang, Yongsheng Fan, Hong Xiao, Zhuoyu Li
M2-type pyruvate kinase (PKM2) contributes to the Warburg effect. However, it remains unknown as to whether PKM2 has an inhibitory effect on mitochondrial function. We report in this work that PKM2 overexpression inhibits the expression of Drp1 and results in the mitochondrial fusion. The ATP production was found to be decreased, the mtDNA copy number elevated and the expression level of electron transport chain (ETC) complex I, III, V depressed in PKM2 overexpressed cells. PKM2 overexpression showed a decreased p53 protein level and a shorter p53 half-life...
October 27, 2016: Oncotarget
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/27799064/mipep-recessive-variants-cause-a-syndrome-of-left-ventricular-non-compaction-hypotonia-and-infantile-death
#18
Mohammad K Eldomery, Zeynep C Akdemir, F-Nora Vögtle, Wu-Lin Charng, Patrycja Mulica, Jill A Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N Jhangiani, Holly H Zimmerman, Donna M Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna V Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A Gibbs, Christine M Eng, Seema R Lalani, Jozef Hertecant, Richard J Rodenburg, Omar A Abdul-Rahman, Yaping Yang, Fan Xia, Meng C Wang, James R Lupski, Chris Meisinger, V Reid Sutton
BACKGROUND: Mitochondrial presequence proteases perform fundamental functions as they process about 70 % of all mitochondrial preproteins that are encoded in the nucleus and imported posttranslationally. The mitochondrial intermediate presequence protease MIP/Oct1, which carries out precursor processing, has not yet been established to have a role in human disease. METHODS: Whole exome sequencing was performed on four unrelated probands with left ventricular non-compaction (LVNC), developmental delay (DD), seizures, and severe hypotonia...
November 1, 2016: Genome Medicine
https://www.readbyqxmd.com/read/27793739/globular-ctrp3-promotes-mitochondrial-biogenesis-in-cardiomyocytes-through-ampk-pgc-1%C3%AE-pathway
#19
Cheng-Lin Zhang, Han Feng, Li Li, Jin-Yu Wang, Dan Wu, Yan-Ting Hao, Zheng Wang, Yan Zhang, Li-Ling Wu
BACKGROUND: Mitochondrial biogenesis is crucial for the maintenance of mitochondrial function and cellular homeostasis. C1q/tumor necrosis factor-related protein-3 (CTRP3) is an adipokine that owns multiple functions on metabolic and cardiovascular diseases. However, whether CTRP3 affects mitochondrial biogenesis in cardiomyocytes remains unknown. METHODS: Neonatal rat ventricular myocytes were cultured and treated with globular CTRP3 (gCTRP3). The expression of mitochondrial biogenesis related genes was measured by real-time PCR and western blot analysis...
October 26, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27789248/role-of-sodium-nitroprusside-in-regulating-retinal-ganglion-cell-damage-through-mitochondrial-transcription-factor-a
#20
Xiao Liu, Luosheng Tang, Baihua Chen, Wenmin Jiang
Accumulating evidence has reported that nitric oxide (NO) can be cytotoxic and induce apoptosis. NO can also be genotoxic and cause DNA damage and mutations. It has been shown that NO damages mitochondrial DNA (mtDNA) to a greater extent than nuclear DNA. Sodium Nitroprusside (SNP), a NO donor, could efficiently promote NO formation. The viability of retinal ganglion cells (RGC) and the mtDNA copy numbers could also be altered by SNP conduction. Mitochondrial transcription factor A (TFAM), an mtDNA transcription factor, plays an essential role in the maintenance of mtDNA and mitochondrial homeostasis...
December 2, 2016: Neuroscience Letters
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